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through whole-exome sequencing, it was discovered that SAMS is the result of a mutation of the GSC gene. The data collected from the whole-exome sequencing

populations. Pairwise Fst values among several populations based on whole exome sequencing (WES) in 2016: Arlequin Fstat SMOGD diveRsity (R package) hierfstat

has been linked to multiple neurological disorders both through large exome and genome sequencing efforts, as well as post mortem and clinical studies

researchers working on rare disease genomics. He also co-authored a handbook on exome sequencing and analysis for clinicians. The GUaRDIAN consortium includes

1186/s40246-019-0215-5. PMC 6760067. PMID 31554517. Scaria V, Sivasubbu S (2015). Exome Sequence Analysis and Interpretation - Handbook for Clinicians (First ed

example, unsolicited findings (U.F.s) of pediatric exome sequencing. They are findings based on pediatric exome sequencing that explain in greater detail the

that sequence specific subsets of the genome – such methods include whole exome sequencing (1–2% of the genome) or SNP genotyping (< 0.1% of the genome)

genome sequencing. This is then followed by exome capture by means of in-solution hybridization. The exome part of the genome consists of exons. Parallel

tests for hundreds of rare diseases, as well as panels of genes and whole exome sequencing (20,000 gene) Mendelian disorders using massively-parallel DNA

portion of a genome is sequenced. Several platforms were developed to perform exome sequencing (a subset of all DNA across all chromosomes that encode genes)

considered candidate disease genes for the individual in question. Whole exome sequencing is a brute-force approach that involves using modern day sequencing

called Exome+, a version of Exome sequencing which according to the company provides 100 times more data than was previously available. Exome+ includes

has been the diagnostic tool of choice. The falling cost for the whole exome sequencing and, eventually, whole genome sequencing, may replace DNA microarray

sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify

calling in ChIP-seq data. Peak calling may be conducted on transcriptome/exome as well to RNA epigenome sequencing data from MeRIPseq or m6Aseq for detection

Rare variants are increasingly being studied, as a consequence of whole exome and whole genome sequencing efforts. While these variants are individually

the research program in 2016. The program was expanded to include whole exome sequencing in 2018. Using the patient volunteers' genetic data stored in

shortly after neural tube closure. Genome-wide association studies (GWAS) and exome sequencing from subjects in the UK Biobank show that gene polymorphism and

PMID 27729268. Novarino G, Fenstermaker AG, Zaki MS, et al. (Jan 2014). "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative

mutations in ITGA8 in three members of two unrelated families utilizing exome sequencing. One of the families was consanguineous.[citation needed] In

in whole exome sequencing, considering both synonymous mutations and hotspot driver mutations. Ensembles of targeted panels and whole exome sequencing

and producing early catalogs of normal human genomic variation. Using exome sequencing, Nickerson also identified the gene for Miller syndrome with

Charles; Pietsch, John; Lim, Foong-Yen; Bucher, Brian (2014-03-01). "Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital

are being studied and characterized. With the increasing utilization of exome and whole genome sequencing, it is anticipated that many more individuals

including ones looking at the pharmacogenetic map of Qatar from genome and exome sequences available in public domain. The availability of population-scale

a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, more cases were discovered. In all known

preliminary guidelines for clinical laboratories that perform clinical exome and genome sequencing. They outlined a list of "medically actionable" pathogenic

Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, et al. (July 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome"

Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C (Feb 10, 2012). "Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive

of serial single-gene testing or multigene panel of genes of interest or exome sequencing. Fryns-Aftimos syndrome is a genetic conditions that presents

time-consuming and expensive once more target sites are added. Exome sequencing utilizes exome capture to acquire the protein coding regions of the genome

laboratories to evaluate all 20,000 genes of the human genome at once through exome sequencing and whole genome sequencing. A catalogue of the many uses of

enzyme. Kabuki syndrome is diagnosed with genetic testing (targeted, whole exome or whole genome sequencing). When genetic testing is not available, Kabuki

sequencing. Shendure's research group at the University of Washington pioneered exome sequencing and its application to Mendelian disorders, a strategy that has

very beginnings. Exome sequencing has become increasingly popular as a tool to aid in diagnosis of genetic disease because the exome contributes only

KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. (September 2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature

M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N (August 2011). "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive

chondrodysplasia Grebe type is hard to diagnose. Genetic testing, usually exome sequencing, is used to identify the mutation to the GDF5 gene. "Chondrodysplasia

insulin-glucose homeostasis (SPINA-DI). In combination with SPINA-GBeta and whole-exome sequencing, calculating SPINA-GR helped to identify a new form of monogenetic

AI. The clinical diagnosis can be confirmed by molecular testing such as exome sequencing.[citation needed] So far, no effective treatment is available

Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM (Feb 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nat Commun

Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W (2017). "Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial

be pathogenic for skeletal and cardiac myopathies, gene panels or whole exome sequence analysis are mostly used. Sanger sequencing is consequently used

Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Hum

reported that aristolochic acid is a strong carcinogen. Whole-genome and exome analysis of individuals with a known exposure to aristolochic acid revealed

only be conducted by a performance of an IQ test score of below 70. Whole exome sequencing (WES) can be used as a non-biased tool in the diagnostic evaluation

sequencing were performed. During II, TCGA was able to begin performing whole exome and whole transcriptome sequencing on all cases and whole genome sequencing

J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA (July 2014). "Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated

recommendations for reporting incidental and secondary findings in clinical exome and genome sequencing. Green also contributed to the design of a variant

disease. Mutations in GRIN2A are associated to refractory epilepsy. Whole exome/genome sequencing has led to the discovery of an association between mutations

Zhao F, Wu J, Xue A, Su Y, Wang X, Lu X, Zhou Z, Qu J, Zhou X (Apr 2013). "Exome sequencing reveals CCDC111 mutation associated with high myopia". Human

Library of Medicine. "Entrez Gene: zinc finger protein 644". Shi, Yi (2011). "Exome Sequencing Identifies ZNF644 Mutations in High Myopia". PLOS Genetics. 7

AK, Louvi A, Kwan KY, Choi M, Tatli B, et al. (September 2010). "Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations"

Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al. (Jan 2010). "Exome sequencing identifies the cause of a mendelian disorder". Nature Genetics

Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, et al. (2010). "Exome Sequencing, ANGPTL3Mutations, and Familial Combined Hypolipidemia". New

Yu, W; Yan, N; Zhou, X; Fu, J; Guo, X; Han, P; Wang, J; Liu, X (2012). "Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree

J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (July 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8

next-generation sequencing technologies (including whole-genome sequencing and exome sequencing) and microarray analyses. The raw data is then statistically

exome. Boston: Xconomy. Retrieved 6 July 2019. Vinluan, Frank (23 May 2017). "Novartis' Martin Seidel Joins IFM Therapeutics as V.P. of R&D". exome.

embryonic". Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB (Jun 2011). "Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis

of the mutations were validated using two different sequencing methods (Exome and Sanger). The results of immunohistochemistry and multiple sequence alignment

Alfonso E, Vance JM, Lam BL, Peričak-Vance MA (February 2011). "Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa". American Journal

pneumonitis, CMV encephalitis, and hemophagocytic lymphohistiocytosis. Whole-exome sequencing on genomic DNA from his blood showed he had homozygous variants

McDonald MT, Meisler MH, Goldstein DB (May 2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". J Med Genet. 49 (6): 353–61

Klein-Hitpass L, Hinnebusch AG, Horsthemke B, Lohmann DR, Zeschnigk M (Aug 2013). "Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in

of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United

micrognathia and mild dysmorphic features. Diagnosis requires diagnosis by whole-exome sequencing done by a genetic specialist. In 2014, a human genetic disorder

antigen 8". Otto EA, Hurd TW, Airik R, et al. (October 2010). "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy"

determined. De novo loss of function mutations in WDR45 were identified by exome sequencing in 20 patients with progressive neurodegeneration and evidence

insulin-glucose homeostasis (SPINA-DI). In combination with SPINA-GR and whole-exome sequencing, calculating SPINA-GBeta helped to identify a new form of monogenetic

for Early Onset Atherosclerosis, Diabetes and Metabolic Syndrome by Whole Exome Sequencing and Linkage Analysis". Circulation. 128 (22 Supplement). Mercer

Whole genome or exome sequencing typically use high throughput DNA sequencing technologies. Limiting the sequencing to only the whole exome instead can decrease

Julie C; Dorward, Heidi M; Huizing, Marjan; Barshop, Bruce A (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic

McElreavey, K; Boespflug, O. T.; Besbes, G; Abdelhak, S; Petit, C (2014). "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with

Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF (2013). "Exome sequencing reveals new causal mutations in children with epileptic encephalopathies"

plasma transporter with a preference for citrate. In 2014, by means of exome sequencing it was determined that a genetic mutation of the SLC13A5 gene

areas that utilize high throughput DNA sequencing extensively are: Whole Exome Sequencing, Whole Genome Sequencing (WGS), and genome wide association studies

plasma transporter with a preference for citrate. In 2014, by means of exome sequencing it was determined that a genetic mutation of the SLC13A5 gene

abnormalities. For example, advanced methods for examining the genome viz., whole-exome sequencing and gene expression profiling, have identified 166 non-silent

(2012): W54-W58. Kim, Yun Joong, et al. "Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial

dominantly inherited recurrent corneal erosion dystrophy (ERED). Whole-exome sequencing first identified a heterozygous mutation (c.2816C>T, p.T939I)

Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ (December 2011). "Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia

used for metacarpal synostosis: Physical examination Radiographs Whole exome sequencing Sanger sequencing Treatment for this malformation typically involves

conjunction with cases of ovarian teratoma. Through genetic studies of exome sequence, it was found that gliomatosis is genetically identical to the

Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, et al. (July 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome"

McDermott U, Stratton MR, Campbell PJ, El-Naggar AK, Futreal PA (2013). "Whole exome sequencing of adenoid cystic carcinoma". J Clin Invest. 123 (7): 2965–8

Lanzi G, Mias GI, Lonardi S, Dobbs K, et al. (September 2013). "Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations

and associated genes challenged in light of data from large-scale human exome sequencing". Am. J. Hum. Genet. 93 (2): 368–83. doi:10.1016/j.ajhg.2013

KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS (June 2017). "Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients

will grow Molecular and expression data will combine for drug repurposing Exome sequencing will persist longer than expected Progress in interpreting non-coding

clinical features but may only be determined by a genetic test. The full exome sequencing test is used to determine the partial deletion, deletion,or mutation

cardiac phenotype, a series of tests were performed, including clinical whole exome sequencing. Because the clinical diagnostic laboratory did not identify

Let a Billion-Dollar Molecule Slip Away and Make a Fortune for Vertex". EXOME. Retrieved 19 January 2018. Proffitt, Allison (May 9, 2008). "Joshua Boger:

Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R (Sep 2012). "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma". Nature

2011). "Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Archives of Ophthalmology. 129 (9): 1212–7

Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ (January 2010). "Exome sequencing identifies the cause of a mendelian disorder". Nature Genetics

commonly exome sequencing. PPP2R5D-related intellectual disability was named "Jordan's syndrome" after Jordan Lang, who was diagnosed by whole exome sequencing

functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810

annotations could improve rare variants association analysis power of whole exome and whole genome sequencing studies. Some tools have been developed to enable

decarboxylase activity was discovered. In 2011, genetic research through exome sequencing identified the ACSF3 gene as a cause of CMAMMA with normal malonyl-CoA

human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data". Scientific Reports. 11 (1): 20510. Bibcode:2021NatSR..1120510G

Wang C, Zhang H, Gu J, Hu W, Fu W, Hu Y, Li M, Liu Y (January 2012). "Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic

intellectual disability, enamel hypoplasia and hypertelorism.: 571  In 2013, whole-exome sequencing showed that a missense mutation resulting in overactive phosphatidylserine

Galehdari, M; Dokhanchi, M; Esmaeilzadeh, E; Garshasbi, M (2020). "Whole-exome sequencing identified a novel variant in an Iranian patient affected by

Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK (May 2015). "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis

Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, et al. (August 2012). "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies

"Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing". Journal of Medical Genetics. 48 (9): 606–9. doi:10.1136/jmg

E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK, Kim KK (Jan 18, 2012). "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic

Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S (September 2013). "Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked

Hosomichi K, Narita A, Shirota T, Tomoyasu Y, Maki K, Inoue I (Jul 2011). "Exome resequencing combined with linkage analysis identifies novel PTH1R variants

Simon G. (2014-08-01). "Missing Genetic Risk in Neural Tube Defects: Can Exome Sequencing Yield an Insight?". Birth Defects Research. Part A, Clinical

direct mutation screening. Other techniques, such as gene panels and whole-exome sequencing and whole genome sequencing can also be used to provide distinct

Tarpey P, Raine K, Huang D, Ong CK, Stephens P, et al. (January 2011). "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1

Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM (Feb 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nat Commun

York Times. Retrieved September 22, 2016. Fidler, Ben (July 11, 2013). "Exome: Alnylam Shares Boom on Early Data For Subcutaneous RNA Drug". Xconomy.

Avraham, Karen B.; King, Mary-Claire; Kanaan, Moien (2010-07-09). "Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity

PMID 17962469. Guo Y, Prokudin I, Yu C, et al. (2014). "Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection

of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United

PMC 5557504. PMID 28302740. Razmara E, Garshasbi M (July 2018). "Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital

Ercan-Sencicek AG, et al. (2012). "De novo mutations revealed by whole-exome sequencing are strongly associated with autism". Nature. 485 (7397): 237–241

peripheral neuropathy, hearing loss, and cerebral atrophy. Subsequently, exome sequencing identified a homozygous stop mutation in DNAJC3. Further screening

S.; Dickerson, J. E. (2014). "The genetic basis of DOORS syndrome: An exome-sequencing study". The Lancet Neurology. 13 (1): 44–58. doi:10.1016/S1474-4422(13)70265-5

understanding of the causes and treatments of autism. The ASC is the largest whole-exome sequencing study in autism, with over 22,000 samples analyzed to date. Buxbaums

human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data". Scientific Reports. 11 (20510): 20510. doi:10.1038/s41598-021-99895-5

dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing". Human Molecular Genetics. 22 (7): 1395–1403. doi:10.1093/hmg/dds556

C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A (June 2011). "Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma"

Ercan-Sencicek AG, et al. (2012). "De novo mutations revealed by whole-exome sequencing are strongly associated with autism". Nature. 485 (7397): 237–241

peripheral neuropathy, hearing loss, and cerebral atrophy. Subsequently, exome sequencing identified a homozygous stop mutation in DNAJC3. Further screening

PMID 993918. Opitz JM, Jorde LB (July 27, 2011). "Hamartoma Syndromes, Exome Sequencing, and a Protean Puzzle". The New England Journal of Medicine.

the size of the head, and birth weight.[citation needed] Full genome and Exome next generation DNA testing is the primary diagnostic tool for Costello

Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ (May 2011). "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta

Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (October 2014). "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary

Simone; Galluzzi, Paolo; Grosso, Salvatore; Zeviani, Massimo (2016). "Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene"

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–83. doi:10

frequency reference via cross-laboratory data integration: insights from 7452 exome samples". National Science Review. 11 (10). doi:10.1093/nsr/nwae326. ISSN 2095-5138

Jason; Keagle, Pamela; Miller, Jack W.; Calini, Daniela (2014-10-22). "Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial

Clinical Genetics Diseases and genes discovered Chromosomal microarray Exome sequencing Else Endoscopic repair of laryngeal cleft in 2.5 kg preemie Video

chromosomal microarray analysis followed by an epilepsy gene panel or whole exome sequencing may be considered after MRI imaging has been exhausted. Differential

Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM (Feb 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nat Commun

Shore RC, Kirkham J, Inglehearn CF, Mighell AJ (January 2014). "Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause

"Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing". Gene. 546 (2): 425–9. doi:10.1016/j.gene.2014.06.011. PMID 24914498

Kumar S, Honavar SG, Maitra A, Chakrabarti S, Majumder PP (Jul 2014). "Exome sequencing reveals the likely involvement of SOX10 in uveal melanoma". Optometry

which spanned from genetic marker D3S1573 to genetic marker rs2279323. Exome sequencing done on them afterwards showed a mutation (L171P) in their POC1A

types of restriction enzymes. In hospital settings, a process named whole exome sequencing are used and are beneficial in determining whether CALM-3 is

suspected based on the symptoms. Methods to detect the mutation include whole exome sequencing and panel testing, in which a selection of potential genes involved

Hanagasi H, Gurvit H, Gibbs JR, Oliveira C, Emre M, Singleton A (2012). "Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation

Karch S, Hinderhofer K, et al. (July 2017). "Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye". American Journal of Medical

Wang K, Kan J, Yuen ST, Shi ST, Chu KM, Law S, et al. (October 2011). "Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes

Sweeney E, Mansour S, Mohammed S, Donnai D, Black G (Nov 2011). "Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B

Currás-Freixes M, de Cubas AA, Contreras L, Richter S, et al. (March 2015). "Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene". Journal

Hirvonen EA, Pitkänen E, Hemminki K, Aaltonen LA, Kilpivaara O (2017). "Whole-exome sequencing identifies novel candidate predisposition genes for familial

"Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families". Cell Reports

2015). "What's Your DNA Worth? The Scramble To Cash In On the Genome". exome. Retrieved 10 January 2017. "Company Timeline & Milestones". Genomic Health

various agronomic traits. In total, 641 copy number variations are known. Exome capture often reveals new single nucleotide polymorphisms in rice, due to

R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, et al. (August 2011). "Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant

G.; Davis, John M.; Barbazuk, William B.; Kirst, Matias (2013). "Whole-exome targeted sequencing of the uncharacterized pine genome". The Plant Journal

Li YY, Chung GT, Lui VW, To KF, Ma BB, Chow C, et al. (January 2017). "Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating

has written six books and more than 300 journal publications. Using whole-exome sequencing to identify inherited causes of autism. Genome-wide association

adrenal glands) may also be seen in individuals with vitiligo. Numerous whole-exome sequencing studies have demonstrated that vitiligo is associated with polymorphisms

P; Boone, B; Plummer, B; Levy, S; Gogos, J. A.; Karayiorgou, M (2011). "Exome sequencing supports a de novo mutational paradigm for schizophrenia". Nature

Some of the most important include identifying genes involved in ALS using exome sequencing and finding risk factors associated with NMO. Most recently he

single-gene testing, or multigene-panel testing. Genomic testing including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered

Ho, Hong-Nerng; Yang, Yu-Shih; Chen, Pei-Lung (July 2015). "Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array

Chorich LP, Sullivan ME, Knight J, et al. (December 2019). "The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic

FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, et al. (June 2011). "Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma"

of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United

Hartman M, Ong KW, Tan BK, Rozen SG, Tan PH, Tan P, Teh BT (August 2014). "Exome sequencing identifies highly recurrent MED12 somatic mutations in breast

Manley PE, Jones RT, Dias-Santagata D, Thorner AR, et al. (February 2014). "Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature

Navalli D, Satishchandra P, Pal PK, Kumar A, Faruq M (February 2015). "Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia

Dugas, Martin; Schindela, Sonja; Trifonov, Vladimir (2011-12-01). "Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia

Intellectual Disability; PODXL and RIC3 genes for familial Parkinson's disease by exome sequencing approach; and iii) demonstration of differences/similarities

(September 2011). "Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband"

Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I (January 2013). "Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive

autosomal recessive disease, and its genetic diagnosis can be carried out by exome sequencing. The cause is biallelic loss of function, or in other words the

Plagnol V, Beswick R, Kirwan M, de la Fuente J, et al. (April 2012). "Exome sequencing identifies MPL as a causative gene in familial aplastic anemia"

Syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing. Four patients were identified in the paper which recorded the

single-gene testing, or multigene-panel testing. Genomic testing including exome sequencing, genome sequencing, and mitochondrial sequencing may be considered

Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F (December 2013). "Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated

Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C (2011). "Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis"

Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG (2010). "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome"

"VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing". Genome Research. 22 (3): 568–576. doi:10.1101/gr.129684.111

Jisheng; Gao, Fei; Li, Jiangxia; Wu, Xinyi; Liu, Qiji (28 July 2015). "Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia

Hartman M, Ong KW, Tan BK, Rozen SG, Tan PH, Tan P, Teh BT (August 2014). "Exome sequencing identifies highly recurrent MED12 somatic mutations in breast

et al. (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic

JH, Lee JE, Blanco S, Nickerson E, Gabriel S, et al. (June 2012). "Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like

Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A (May 2011). "Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in

M-A, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases

Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY (November 2011). "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal

that is transforming genetics and medicine. Through his development of exome sequencing and other novel technologies, he has defined new paradigms for

Shimomura, Yutaka; Petukhova, Lynn; Christiano, Angela M. (2012-04). "Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal

Mats E.; Getz, Gad (2018-07-01). "SETD2 Is Recurrently Mutated in Whole-Exome Sequenced Canine Osteosarcoma". Cancer Research. 78 (13): 3421–3431. doi:10

by abnormal gait and spasticity of lower limbs. With the usage of whole exome sequencing and homozygosity mapping, investigations discovered a causative

of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United

Tabor HK, Nickerson DA, Barnes KC, Gibson RL, Bamshad MJ (July 2012). "Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic

Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK (May 2015). "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis

annotation, and interpretation of human next-gen sequence data (genome, exome, targeted gene). knomeDISCOVERY Research services include project-driven

Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD (October 2013). "Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech"

Vellarikkal SK, Jayarajan R, Dixit V, Verma A, et al. (April 2016). "Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis

609812 Bansal, V; Winkelmann, BR; Dietrich, JW; Boehm, BO (2024). "Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant

Bonn F, Martinelli P, Cherukuri PF, Teer JK, et al. (October 2011). "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy

Jiang H, Yin Y, Zhu Z, Li X, Zhang B, Ma D, Wang Y, You M (Sep 2012). "Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in

M, Alrayes N, Mohamoud HS, Almramhi MM, Anshasi W, et al. (June 2015). "Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous

Spaendonck-Zwarts KY, Postma AV, Sefiani A, Ratbi I, Bezzina CR (June 2017). "Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy

mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects". American

is a protein that in humans is encoded by the SAMM50 gene. By means of exome sequencing, two variants - P377A and V231I on the SAMM50 gene were determined

Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, et al. (August 2014). "Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic

Braverman, N. (2011-09-01). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic

genetic causes are being identified with the cost and accessibility of whole exome sequencing. After renal biopsy, these syndromes are commonly diagnosed as

O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic

RB, Fei J, Jin HY, et al. (2011). "RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary

most commonly known genetic defect predisposing people to obesity. In an exome-wide meta-analysis across three cohorts (UKB,GHS and MCPS), there were 16

suspect genes and biological pathways related to spontaneous preterm births. Exome sequences from women who had experienced SPTB were compared to those from

PMID 14567970. Bagnall RD, Molloy LK, Kalman JM, Semsarian C (September 2014). "Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic

suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. Exome sequencing and expression studies have shown that BSS is caused by mutations

whole exome sequencing. With the exception of escaped genes, only the active X chromosome will transcribe mRNA and produce protein. The exome sequencing

Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I (2014). "Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive

imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing A ketogenic diet impairs the ability of the kidney to excrete

candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing". Eur J Hum Genet. 29: 122–130. doi:10.1038/s41431-020-0680-2

Korostynski M, Potulska-Chromik A, Redowicz MJ, Zekanowski C (July 2018). "Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing

whole exome sequencing. With the exception of escaped genes, only the active X chromosome will transcribe mRNA and produce protein. The exome sequencing

have a mutation in the retinoic acid-induced 1(RAI1) gene through Whole Exome Sequencing, but there has been no otherwise proven link between the RAI1

T.; Meisler, M. H.; Goldstein, D. B. (2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". Journal of Medical Genetics

imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing GRCh38: Ensembl release 89: ENSG00000186566 – Ensembl, May 2017

Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I (2014). "Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive

Abdelaziz AR, Lee EY, Monga I, Alkelai A, et al. (February 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nature

JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB (October 2010). "Exome sequencing in Brown-Vialetto-van Laere syndrome". Am. J. Hum. Genet. 87

Jiralerspong S, Okamura-Ikeda K, Ataman B, et al. (January 2013). "Using whole-exome sequencing to identify inherited causes of autism". Neuron. 77 (2): 259–73

Sarah; Steuernagel, Burkhard; Pfeifer, Matthias (2013-11-01). "Barley whole exome capture: a tool for genomic research in the genus Hordeum and beyond". The

(2011). "SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing". Genome Biol. 12 (9): R91. doi:10.1186/gb-2011-12-9-r91. PMC 3308054

and associated genes challenged in light of data from large-scale human exome sequencing. Am. J. Hum. Genet. 93, 368–83 (2013). Redin, C., […], Mandel

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–83. doi:10

testing of Filippi Syndrome makes use of three major techniques: Whole Exome Sequencing, which focuses on sequencing the exons in the region of the genome

"Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder". JAMA. 314 (9): 895–903

Peng X, Zhang Z, Zhang X, Huang K, Wu T, Wu C, Miao X, Lin D (2018). "Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding

1038/s41467-019-13433-6 Retshabile, G, Mlotshwa, B.C.,Williams, L et al. Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern

McNaughton AJ, Taylor S, Hudson ML, Liu X, Guerin A, Ayub M (December 2019). "Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case

T, Reigo A, Nikkolo C, Kals M, Aruaas K, et al. (February 2017). "Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with

et al. (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic

consanguineous families and are the likely causal mutations implementing exome /autozygome investigated to recognize homozygous truncating variants in

and risk of breast cancer. Utilizing publicly available datasets of whole-exome sequencing, a link was found between TOPBP1 mutations and pulmonary hypertension

"Reconstructing Native American Migrations from Whole-Genome and Whole-Exome Data". PLOS Genetics. 9 (12): e1004023. arXiv:1306.4021. doi:10.1371/journal

Ha BH, Evans P, Bacchiocchi A, McCusker JP, et al. (September 2012). "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma". Nature

2023. "Vertex, CRISPR Tx Team up on Gene Editing Drugs in $105M Pact". Exome. 26 October 2015. CRISPR Therapeutics and Vertex Pharmaceuticals Announce

C/C++ library designed for analyzing large scale whole-genome and whole-exome studies. MQFAM is a multivariate test of association (MQFAM) that can be

H.; Sieff, Colin A.; Orkin, Stuart H.; Nathan, David G. (2012-07-02). "Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia"

Wang Q, Davis-Turak J, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive

Bourgeron T, Brice A, Depienne C (2012). "Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes

Williams SG, Monaghan RM, Fotiou E, Cordell HJ, et al. (February 2019). "Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy

Nikopensius T, Reigo A, Nikkolo C, Kals M, Aruaas K, et al. (2017). "Whole-exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With

Wang Q, Davis-Turak J, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive

Roepman, R., Knoers, N. V. A. M., Veltman, J. A., Brunner, H. G. (2010). "Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome"

narrowed down the locus to 17q25.3. Direct sequencing of the region and whole-exome sequencing identified the p.Arg4810Lys mutation in RNF213 gene as a founder

failed to identify many single gene variants of large effect. More recent exome and genome sequencing studies have begun to reveal a number of de novo gene

the MLL gene can be carried out. Otherwise, it may be diagnosed by whole-exome sequencing or whole genome sequencing. There have also been patients with

and guiding therapeutic decisions in AML patients. In 2011, using whole exome sequencing to further explore AML with normal karyotype, Falini led the

Abdelaziz AR, Lee EY, Monga I, Alkelai A, et al. (February 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nat Commun

"Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics. 15 (1): 46. doi:10.1186/1471-2350-15-46

Freysteinsdottir ES, Reynisdottir I, Hart SN, et al. (October 2014). "Exome sequencing identifies FANCM as a susceptibility gene for triple-negative

Frausto RF, Croasdale C, Yee RW, Hejtmancik FJ, Aldave AJ (2016). "Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1

(September 2011). "Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband"

of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United

of cancer can provide. He argues that widespread use of panel tests and exome analyses to identify cancer-causing mutations would be simpler and cheaper

Iacopetta B (August 2012). "Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer

found by various methods, including whole-genome sequencing, X-chromosome exome sequencing, and direct sequencing of the ZC4H2 gene: all mutations were

Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C (April 2011). "Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic

found by various methods, including whole-genome sequencing, X-chromosome exome sequencing, and direct sequencing of the ZC4H2 gene: all mutations were

Abdelaziz AR, Lee EY, Monga I, Alkelai A, et al. (February 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nature

PMID 22412387. Ben-David, E; Shifman, S (October 2013). "Combined analysis of exome sequencing points toward a major role for transcription regulation during

instead of the exon region, the whole-exome sequencing technology can still be used, as the recent whole-exome sequencing has already extended its targets

"TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing". Brain. 133 (Pt 12): 3510–8. doi:10.1093/brain/awq323. PMID 21106500

BW, Kleefstra T, Yntema HG, Kroes T, et al. (November 2012). "Diagnostic exome sequencing in persons with severe intellectual disability". The New England

genomic technologies and statistical approaches to evaluate copy number and exome sequencing variants, as well as mRNA expression, miRNA expression, DNA methylation

of cancer can provide. He argues that widespread use of panel tests and exome analyses to identify cancer-causing mutations would be simpler and cheaper

Karch S, Hinderhofer K, et al. (July 2017). "Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye". American Journal of Medical

Rambaldi A, Pasqualucci L, Rabadan R, Haferlach T, Falini B (Dec 2011). "Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia

Freysteinsdottir ES, Reynisdottir I, Hart SN, et al. (October 2014). "Exome sequencing identifies FANCM as a susceptibility gene for triple-negative

Park T, Park WY, Choi BY (18 March 2013). "Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing

goal of finding the genetic determinants of their disease through whole exome and whole genome sequencing. EPGP enrolled over 4,000 participants and,

Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V (January 2014). "Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration

H, Zhu Z, Wang D, Xiao H, Guo A, Xia J, Miao X, Tang S, Wang G (2013). "Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's

uses blood-derived DNA to conduct whole-genome sequencing (WGS) and whole-exome sequencing (WES) on patients and relevant family members. The UDN metabolomics

Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C (April 2011). "Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic

; Niikawa, N.; Nickerson, D. A.; Bamshad, M. J.; Shendure, J. (2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature

Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP (Apr 2014). "Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated

Zhu Z, Wang D, Xiao H, Guo A, Xia J, Miao X, Tang S, Wang G (June 2013). "Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's

Stapleton J, Leffell DJ, Mayne ST, Bale AE (2014). "Novel gene identified in an exome-wide association study of tanning dependence". Exp. Dermatol. 23 (10): 757–9

M, Nakamura M, Yoshikawa T, Kanba S, Sano A, Kato T (September 2011). "Exome sequencing identifies a novel missense variant in RRM2B associated with

(25 August 2013). Characterization of Unique Features of the Denisovan Exome (Masters thesis). California State University. hdl:10211.3/47490. Archived

T, Reigo A, Nikkolo C, Kals M, Aruaas K, et al. (February 2017). "Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with

A.; Lifton, Richard P.; Hildebrandt, Friedhelm (February 2016). "Whole exome sequencing identifies causative mutations in the majority of consanguineous

Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, et al. (December 2010). "Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia". The

drug developers. PGDx was the first clinical laboratory to provide whole-exome sequencing for cancer patients in 2011. Grand Prize Winner of the Amersham/Pharmacia

"Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease". Genetics

defects Elective genetic and genomic testing Eugenics Full genome sequencing Exome sequencing Genetic counseling List of genetic disorders List of genetic

in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study". The Lancet Neurology. 11 (9): 764–773

"Mutational Signature of Aristolochic Acid Exposure as Revealed by Whole-Exome Sequencing". Science Translational Medicine. 5 (197): 197ra102. doi:10.1126/scitranslmed

Silber J, Gorovets D, Zhang J, Kastenhuber ER, et al. (October 2012). "Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade

Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, et al. (May 2012). "Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking

Kimber W.; First, Olivia; Quan, Courtney; Mullin, Patrick M. (2022). "Whole-exome sequencing uncovers new variants in GDF15 associated with hyperemesis gravidarum"

Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA (Jun 2012). "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate

genes appeared (based on their OXGR1 gene's DNA structure as defined by exome sequencing) to be unable to form an active OXGR1 protein. The study proposed

particular, he has developed an approach to map copy number variation from whole exome sequencing data. He has published approaches to quantify hidden relatedness

R; Gelpí, J. L.; Orozco, M; Pisano, D. G.; Zamora, J; et al. (2011). "Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene

Wang J, Breen MS, De Rubeis S, An JY, et al. (February 2020). "Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in

H, Erickson JA, Peters CL (September 2014). "Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in a large multi-generation

(2017). Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. BMC medical genetics, 18(1), 1-9. Allerston CK, Shimizu M, Fujieda

colonization, a trait that may be associated with periodontitis. Using whole exome sequencing and the human reference genome as a comparison, a novel FAM166C

HH, Jørgensen AB, Duga S, Angelica Merlini P, et al. (February 2015). "Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial

associated with the syndrome. Methods of genetic detection include whole exome sequencing and panel testing, which involves sequencing a selection of potential

Pfister SM, Roberts TM, Meyerson M*, Pomeroy SL*, Cho YJ*. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. (*corresponding

Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, et al. (April 2012). "Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty

two unrelated families as being the cause of both BRA and URA utilizing exome sequencing and direct sequence analysis. This is the first reported genetic

Kenna, TJ, Thomas, GP, Clark, GR, Duncan, EL, Brown, MA (Mar 2011). "Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause

ancestry. In a study done in 2018, a group of researchers performed an exome-wide association study on more than 1,000 European-American patients with

Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, et al. (April 2012). "Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty

Karydas AM, Hsu SC, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive

Kenna, TJ, Thomas, GP, Clark, GR, Duncan, EL, Brown, MA (Mar 2011). "Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause

2015). "What's Your DNA Worth? The Scramble To Cash In On the Genome". exome. Archived from the original on 2015-10-21. Retrieved 10 January 2017. "Invitae

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–83. doi:10

Swaminathan S, Katagirya E, Kyobe S, Wayengera M (2018-05-03). "Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern

Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing". Annals of Laboratory Medicine. 34 (2): 134–138. doi:10.3343/alm

H, Erickson JA, Peters CL (September 2014). "Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in a large multi-generation

and biochemical phenotype and request their samples for high level whole exome sequencing and biobanking. Talents of the students is not only seen in academics

studies the most isolated islands were Korčula, and Susak. A 2016 whole exome sequencing study of 176 individuals from the island of Vis confirmed the

(2017). Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. BMC medical genetics, 18(1), 1-9. Allerston CK, Shimizu M, Fujieda

Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, et al. (January 2015). "Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal

Krummel DA, Auclair D, Bochicchio J, et al. (August 2012). "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations". Nature. 488 (7409):

Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A (2015). "Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal

Valsecchi P, Traversa M, Bonvicini C, Vita A, Sacchetti E, Magri C (Aug 2017). "Exome sequencing in schizophrenic patients with high levels of homozygosity identifies

which was first described in 2019 by Stolerman et al. Standard laboratory exome sequencing can be used to identify the KDM6B gene variant. A 2019 study

Retterer K, Monaghan KG, Bai R, Vitazka P, et al. (July 2016). "Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a

gene (R184C) has been identified. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. This phenotype has been identified

of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United

Therefore, doctors and geneticists generally rely on DNA testing such as whole-exome sequencing to identify the location of the mutation and diagnose the disease

Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA (Jun 2012). "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate

Villamor N, Ordóñez GR, Jares P, Bassaganyas L, et al. (December 2011). "Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene

Human-transcriptome database for alternative splicing (H-DBAS) UniGene Full-parasites Exome sequencing Wettersrand, KA. "The Cost of Sequencing a Human Genome". Genome

Gibbs, JR; Van Maldergem, L; Houlden, H; Singleton, AB (October 2010). "Exome sequencing in Brown-Vialetto-van Laere syndrome". American Journal of Human

HT; Kim, HJ (June 2017). "Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three

defects in oxidative phosphorylation, which occurs in the mitochondria. Exome sequencing, has been used to identify a mutation in the gene coding for

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–283. doi:10

found in ductal adenocarcinoma have been well characterized, and complete exome sequencing has been done for the common types of tumor. Four genes have

Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C (May 2011). "Exome sequencing and functional analysis identifies BANF1 mutation as the cause

Parkinsonism were present in two Turkish siblings, brother and sister. By using exome sequencing, which sequences a selective coding region of the genome, researchers

Tarpey P, Raine K, Huang D, Ong CK, Stephens P, et al. (January 2011). "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1

2014). "Cypher Genomics' Analytics Tech Gains Some Cred in Illumina Deal". Exome. Retrieved 2 November 2015. Meiling, Brittany (May 31, 2015). "Clinic for

Wolfe R, Kelly J, Cebon J, Dobrovic A, McArthur GA (January 2015). "Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma"

exercise with breathlessness [tachycardia and dyspnea]). DNA tests: whole exome sequencing (WES) neuromuscular panels (that only test exons), or whole genome

B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C (Mar 2011). "Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive

Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, et al. (2011). "Exome-sequencing confirms DNAJC5 mutations as cause of Adult Neuronal Ceroid-Lipofuscinosis"

Shalini N; Gibbs, Richard A; Lupski, James R (January 15, 2014). "Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia"

In a study published by the American Journal of Human Genetics in 2012, exome sequencing was used to investigate a group of unrelated individuals with

associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study". Lancet. 380 (9854): 1674–1682. doi:10.1016/S0140-6736(12)61480-9

McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C (2014). "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with

Boniface C, Goode B, Chapman J, Garg K, et al. (June 2020). "Multiregion exome sequencing of ovarian immature teratomas reveals 2N near-diploid genomes

Wang J, Breen MS, De Rubeis S, An JY, et al. (February 2020). "Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in

thrombospondin type 1 motif, 17". Shah MH, Bhat V, Shetty JS, Kumar A (2014). "Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian

Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB (2011). "Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings

AK, Louvi A, Kwan KY, Choi M, Tatli B, et al. (September 2010). "Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations"

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–283. doi:10

biochemical, cellular and bioinformatic tools. She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that

Manley PE, Jones RT, Dias-Santagata D, Thorner AR, et al. (February 2014). "Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature

Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, et al. (August 2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic

Manley PE, Jones RT, Dias-Santagata D, Thorner AR, et al. (February 2014). "Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature

people with hEDS have had whole genome sequencing, and 500 have had whole exome sequencing; this study aims to increase those numbers significantly.[citation

biochemical, cellular and bioinformatic tools. She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that

Pinghua and Tanka population, who both show the reverse pattern. Whole-exome sequencing data of Hong Kong Cantonese, when subject to a Principal Component

in humans, occurring on approximately 80% of all human proteins. Whole exome sequencing is the definitive diagnostic method used to confirm OS.[citation

Oshlack A (2020). "Accuracy of short tandem repeats genotyping tools in whole exome sequencing data". F1000Research. 9: 200. doi:10.12688/f1000research.22639

Vincent; Reilly, Mary M.; Strom, Tim M.; Auer-Grumbach, Michaela (2012). "Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor

Single-nucleotide polymorphism or SNPs (typically after whole genome or whole exome studies) Other research and diagnostic applications (e.g. Synthetic biology)

Tao J, Song L, Ng SC, Wang X, Chen L, Yi F, Ran Z, Zhou R, Xia B (2014). "Exome sequencing identifies DLG1 as a novel gene for potential susceptibility

as well as next generation sequencing, such as de novo sequencing, human exome sequencing for clinical settings and RNA-Seq.[citation needed] Beck, S;

the HNP partnered with personal genomics company Helix in order to gather exome sequencing data—greatly increasing the amount of genetic data collected

H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM (Feb 2015). "X-exome sequencing of 405 unresolved families identifies seven novel intellectual

microlissencephaly. Although genetic diagnosis in patients with MLIS is challenging, exome sequencing has been suggested to be a powerful diagnostic tool. In 1999

Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y (March 2012). "Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome". American

OCLC 1182512815. S2CID 226555687. Wonkam, Ambroise; et al. (2022). "Exome sequencing of families from Ghana reveals known and candidate hearing impairment

to the ZP gene and how they would impact fertility. By performing whole-exome sequencing they isolated a genome that had a mutation in the ZP3 and the

novel rare non-synonymous mutations for migraine without aura identified by exome sequencing". Journal of Neurogenetics. 29 (4): 188–194. doi:10.3109/01677063

Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S (October 2015). "Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure

cerebellar abnormalities worsen and brainstem abnormalities arise. Using whole exome sequencing, four of the patients had a mitochondrial complex І deficiency

Retrieved 21 February 2017. Wang Y, Xu Y, Zhou C, et al. (May 2024). "Exome sequencing reveals genetic heterogeneity and clinically actionable findings

Li YY, Chung GT, Lui VW, To KF, Ma BB, Chow C, et al. (January 2017). "Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating

DNA Elements (ENCODE) Project are for 70-fold exome coverage for standard RNA-Seq and up to 500-fold exome coverage to detect rare transcripts and isoforms

genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing. European Journal of Human Genetics,25(1), 73-78. doi:10.1038/ejhg

Shiina, M; Nukina, N; Koyano, S; Tsuji, S; Kuroiwa, Y; Matsumoto, N (2011). "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive

colleagues published a landmark article in Science, in which they used exome sequencing of patient tumor samples and identified inactivating mutations

Wang C, Zhang H, Gu J, Hu W, Fu W, Hu Y, Li M, Liu Y (January 2012). "Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic

analysis followed by an intellectual disability multigene panel or whole exome sequencing. A diagnosis is established following the identification of a

identified worldwide. Diagnosis is typically done using full genome or exome sequencing. There are likely several more cases that will eventually be

non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing". European Journal of Human Genetics. 24 (11): 1635–1638. doi:10

Loughlin J, Hambleton S, Santibanez-Koref M, Collin M (September 2011). "Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte

patients in "Phase II” of the project. By 2020, St Jude's had sequenced the exome and transcriptome of another 1,200 patients, identifying a total of 23 types

bbadis.2015.02.007. PMID 25708872. Stoffel EM, Eng C (September 2014). "Exome sequencing in familial colorectal cancer: searching for needles in haystacks"

Fernández-Toral J, Sigaudy S, Baban A, Lévy N, Velasco G, López-Otín C (2014). "Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome"

single-gene testing through Sanger sequencing or a multi-gene test through whole exome sequencing or whole genome sequencing. Some features of the disease are

E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A (2013). "Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic

X-linked. This condition can be diagnosed through the following: Whole exome sequencing Whole genome sequencing General physical examination Post-mortem

Humphries P (Oct 2011). "A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement". European

Boston Scientific Spin-Off, Aiming to Tap Veins Without Causing Infections". EXOME. Xconomy, Inc. Retrieved 29 February 2016. "Navilyst Medical Announces Global

in Nigeria for genomic studies, including chromosomal arrays and whole exome sequencing. The project facilitates the collection of a clinical epidemiology

"Reconstructing Native American Migrations from Whole-Genome and Whole-Exome Data". PLOS Genetics. 9 (12): e1004023. doi:10.1371/journal.pgen.1004023

and parentage verification, a 63K DNA array, a new high-density array, exome capture arrays, and updated cat genome assemblies. The gene mapping resources

doi:10.1016/j.drudis.2014.07.009. PMC 4237012. PMID 25058385. A recent exome-sequencing study revealed that 8% of serious endometrial cancers and 9%

Li, H. F.; Lin, Y.; Murong, S. X.; Xu, J.; Wang, N.; Wu, Z. Y. (2011). "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–83. doi:10

Van Houdt J, Callewaert B, Deprest J, Devriendt K, Vermeesch JR (2014). "Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic

Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K (November 2012). "Exome sequencing in a family with restless legs syndrome". Movement Disorders

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–83. doi:10

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–83. doi:10

S2CID 44333. McAllister, Branduff; Donaldson, Jasmine; Binda, Caroline S (2022). "Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease

dominance model. Another study in 2021, which looked at whole-genomes and whole-exomes of 3,362 unrelated Turkish samples, resulted in establishing the first Turkish

"short-read" and third-generation "long-read" sequencing methods, applies to exome sequencing, genome sequencing, genome resequencing, transcriptome profiling

family analysed their genotypes using 23andMe data first and then human exome technology and more recently whole genome. This has led to a number of important

Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V (Apr 2012). "Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis"

310 cancer sequencing screens. The latter describe whole genome or whole exome sequencing of cancer samples from a total of 41,780 patients from 122 different

conducted a study where they used a scientific technique known as whole exome sequencing to test immune-related gene variants within Indigenous Americans

J. Paul; Restagno, Gabriella; Chiò, Adriano; Traynor, Bryan J. (2010). "Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS". Neuron. 68

multiple members. After having SNP-based linkage analysis followed by whole-exome sequencing, the researchers leading the study found a rare genetic mutation

2012). "Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing" (PDF). Journal of Medical Genetics. 49 (4): 277–83. doi:10

Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, et al. (2011). "Exome-sequencing confirms DNAJC5 mutations as cause of Adult Neuronal Ceroid-Lipofuscinosis"

Davis Z, Gardiner A, Collins A, Oscier DG, Strefford JC (2013). "Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic

3 gene located on chromosome 19p13. The mutation was found using whole-exome sequencing and confirmed with Sanger sequencing. Molecular analyses suggest

from 1998) were linked to the main dataset on an ongoing basis. In 2019 exome sequence data from 50,000 persons was released, with 470,000 being available

risk for inherited hereditary diseases. Whole genome sequencing and whole exome sequencing [WES] "may not provide full coverage of critical genes" and performing

"VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing". Genome Research. 22 (3): 568–576. doi:10.1101/gr.129684.111

determinants in IBD and VEOIBD. Muise's laboratory uses techniques such as whole exome sequencing and whole genome sequencing to identify known and novel genetic

"Dante Labs Offers Direct-to-Consumer Hereditary Disease Risk, Genome, Exome Tests in Europe". GenomeWeb. Retrieved 2 December 2018. Megan Molteni (18

L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL (2010). "Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency". Journal of Human Genetics

Grenier, Jean-Cristophe; Gbeha, Elias; Hamdan, Fadi F. (2013-09-26). "Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants

Hershberger RE (Mar 2011). "Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy"

Consortium; GOLD Consortium; VA Million Veteran Program) (December 2017). "Exome-wide association study of plasma lipids in >300,000 individuals". Nature

condition. This condition can be diagnosed by using methods such as whole exome sequencing and examination of the patient's symptoms. More than 80 cases

She studies the rare genetic variants (that can be identified by whole exome sequencing) that affect a response to interferons, the TLR signalling pathway

in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study". The Lancet. Neurology. 17 (8): 699–708. doi:10

exome sequencing, sequence analysis, and single-gene testing followed by targeted gene deletion or duplication analysis. GeneReviews recommends exome

diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre". Journal of Translational Medicine

not affected.: 247–248  Common mutations which cause OI may be caught by exome sequencing and whole genome sequencing. If a pregnancy is already in progress

tumor cell isolation by a polymer nanofiber-embedded microchip for whole exome sequencing". Advanced Materials. 25 (21): 2897–902. Bibcode:2013AdM....25

and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population". European Journal of Human Genetics. 22 (8):

Morino H, Miyamoto R, Ohnishi S, Maruyama H, Kawakami H (January 2014). "Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar

Epstein; et al. (31 August 2012). "A robust model for read count data in exome sequencing experiments and implications for copy number variant calling"

diagnosis for HNRNPH2-related disorder is confirmed through reviews of whole exome sequencing genetic reports by qualified medical professionals along with

(August 2008). Schork NJ (ed.). "Genetic variation in an individual human exome". PLOS Genetics. 4 (8): e1000160. doi:10.1371/journal.pgen.1000160. PMC 2493042

setting. He chose whole genome sequencing because he expects the more limited exome sequencing will not be a relevant technological approach in the long term

Alexander P.; Eichler, Evan E.; NHLBI Exome Sequencing Project; Minority Health-GRID Network (2016-08-31). "Analysis of exome sequencing data sets reveals structural

Zhou HH, Tybjærg-Hansen A, Vogt TF, Hobbs HH, Cohen JC (April 2014). "Exome-wide association study identifies a TM6SF2 variant that confers susceptibility

P, Zhang D, Yang KQ, Tian T, Luo F, Liu YX, et al. (June 2020). "Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family

of these analyses are usually done using whole-genome sequencing / whole-exome sequencing (WGS/WES). But advanced bioinformatics tools can call CNA from 

Spurrell CH (2013). Identifying New Genes for Inherited Breast Cancer by Exome Sequencing (Doctor of Philosophy thesis). University of Washington. Iwamoto

therapies. NHS England successfully negotiated the introduction of whole exome sequencing to diagnose rare diseases in children. In March 2021 Stevens

Kristian; Erlich, Rachel L.; Greulich, Heidi (2012-08-02). "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations". Nature. 488 (7409):

Inflammatory Myofibroblastic Tumor Patients with ALK Fusions Assessed by Whole Exome and RNA Sequencing". OncoTargets and Therapy. 13: 10335–10342. doi:10.2147/OTT

Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, et al. (November 2011). "Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis

disorders of the Arab population with special emphasis on large-scale whole-exome sequencing". Archives of Medical Sciences. 19 (3): 765–783. doi:10.5114/aoms/145370

in a screen of 190 individuals with Amyotrophic Lateral Sclerosis. Whole exome sequencing of 1,000 individuals with heart failure revealed an association

Hoda SA, Wen HY, Brogi E, Weigelt B, Reis-Filho JS (March 2021). "Whole-exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma"

B.; Enders, A. (May 2012). "Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for

Y; Chung, Grace T Y; Lui, Vivian W Y; To, Ka-Fai; et al. (2017-01-18). "Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating

believed to compromise the plasma membrane localization of the protein. Exome sequencing of an infant with severe antenatal onset thoracic insufficiency

Y; Chung, Grace T Y; Lui, Vivian W Y; To, Ka-Fai; et al. (2017-01-18). "Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating

published in 2022 that established a new type of AMD. In the case study, an exome sequence was performed on two girls that had short stature due to acromesomelic

Hoda SA, Wen HY, Brogi E, Weigelt B, Reis-Filho JS (March 2021). "Whole-exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma"

Taiwan related to people with schizophrenia. Although the results of the exome sequencing study were similar to those of similar preceding studies, Tsuang

glycine, and D-serine. Diagnosis of SPATCCM generally relies on whole exome sequencing and the identification of a mutation in the SLC1A4 gene, while

large number of genes at once from a small sample of DNA through whole-exome sequencing (WES) in which the coding regions of all 22,000 genes are sequenced

Fiorella; Hadjivassilious, Marios; Yo-Tsen, Liu; Guo, Min (1 November 2013). "Exome sequencing identifies a significant variant in methionyl-tRNA synthetase

first-tier test for NBS, including one also testing parents using whole exome sequencing (WES) to facilitate filtering variants, 3 initiatives use classical

the human disease. There is no specific test to diagnose HLBKS other than exome/genome sequencing. Currently, there are no genetic therapies specifically

Sadovnick AD, Lepage P, Montpetit A, Ebers GC, Ramagopalan SV (2012). "Exome sequencing identifies a novel multiple sclerosis susceptibility variant

maternally-inherited four-nucleotide insertion (c.859_860insACCT). On the Exome Aggregation Consortium variant browser, only 53 people were found to carry

Tabb KL, Dimitrov LM, Taylor KD, Wang N, Guo X, et al. (April 2018). "Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid

children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing". Molecular Genetics and Metabolism Reports. 19: 100465. doi:10

symptoms and confirmed by genetic testing. Methods have included whole exome sequencing and comparative genomic hybridization (for microdeletions). Sanger

journal Nature that explored the genetic complexity of schizophrenia. The exome sequencing studies of populations in Bulgaria and Sweden revealed that the

"Comparison of whole genome amplification techniques for human single cell exome sequencing". PLOS ONE. 12 (2): e0171566. Bibcode:2017PLoSO..1271566B. doi:10

Valori M, Kivelä T, Setälä K, Morin A, Kwan T, et al. (December 2015). "Exome and regulatory element sequencing of neuromyelitis optica patients". Journal

threonine at position 248 to isoleucine (T248I) has been linked in one whole-of-exome sequencing study to: coarse facial features, scoliosis, pectus excavatum

variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer". Breast

PMC 2276340. PMID 17999358. Pascal, Gellert (December 2014). "Abstract S1-04: Exome sequencing of post-menopausal ER+ breast cancer (BC) treated pre-surgically

functions of Naa15. Two damaging de novo NAA15 mutations were reported by exome sequencing in parent-offspring trios with congenital heart disease. Patient

Yi Z, Ouyang J, Sun W, Li S, Xiao X, Zhang Q (June 2020). "Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa". eBioMedicine

in many CMM disorder patients through genome-wide linkage analysis and exome sequencing. In a mouse model, researchers also found RAD51 products in corticospinal

John Q.; Gibbs, J. Raphael; Brunetti, Maura; Gronka, Susan (2010-12-09). "Exome sequencing reveals VCP mutations as a cause of familial ALS". Neuron. 68

Technology Experimental data Representative database DNA-seq, NGS DNA sequences, exome sequences, genomes, genes TCGA, GenBank, DDBJ, Ensembl Microarray, RNA-seq

Danielsson A, Åkesson K, et al. (October 2015). "Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis"

intellectual disability or epilepsy multigene panel that includes TRPM3 or whole exome sequencing. Following identification of a mutation in the TRPM3 gene, alterations

sequencing of cell-free plasma DNA. They went on to demonstrate the utility of exome-wide sequencing for analysis of ctDNA. Targeted sequencing of plasma DNA

Thorner, Aaron R.; Lawrence, Michael S.; Rodriguez, Fausto J. (2014-02-12). "Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas". Nature

Nibbeling EA, Duarri A, Verschuuren-Bemelmans CC, et al. (November 2017). "Exome sequencing and network analysis identifies shared mechanisms underlying

Lu JT, Sule G, Jiang MM, Bae Y, Madan S, et al. (November 2012). "Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3

Weinert, S; Froyen, G; Frints, S G M; Laumonnier, F; Zemojtel, T (2016). "X-exome sequencing of 405 unresolved families identifies seven novel intellectual

and Cancer Type on Tumor Mutation Burden Scores: A Comprehensive Whole-Exome Study in Cancer Patients From India Nishtha AjitSingh Tanwar, Richa Malhotra

scores of other genes that are found in up to 15% of cases. Recent Whole exome sequencing studies in children and adolescents with PTFL have confirmed

through methods such as genetic testing (encompassing terms such as whole exome sequencing, Sanger sequencing, etc.), routine laboratory tests, and physical

and a combined defect in N- and O-glycosylation. After the use of whole exome sequencing, she was found to have compound heterozygous missense mutations

Collins, Margaret H.; Abonia, J. Pablo; Peng, Yanyan (April 19, 2018). "Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between

Gawne-Cain M, Magee AC, Turnpenny PD, Baralle D (December 2014). "Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause

not diagnostic, the next step is typically either a multigene panel or exome sequencing. Single-gene testing (sequence analysis of ADNP, followed by

"Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder". JAMA. 314 (9): 895–903

Etard, C., Pierce, N.W., Geoffroy, V., Schaefer, E., et al. (Feb 2014). Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in

Bradley N Smith; Nicola Ticozzi; Claudia Fallini; et al. (22 October 2014). "Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial

Kals M, Kivistik PA, Metspalu A, Paal A, Nikopensius T (September 2017). "Exome analysis in an Estonian multiplex family with neural tube defects-a case

isoleucine to mutation to an alanine at position 424.[citation needed] Exome array data showed 7 rare WDR88 variants contribute to the "genetic architecture

"Predicting immunogenic tumour mutations by combining mass spectrometry and exome sequencing". Nature. 515 (7528): 572–576. Bibcode:2014Natur.515..572Y. doi:10

"Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice"