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searching for Exome sequencing 346 found (467 total)

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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, as

analyzing genetic variants called (identified) from a whole genome or exome sequencing study (Shotgun sequencing). DNA sequence information underpins genetic

simvastatin based on SLCO1B1 gene variant using genotyping or whole exome sequencing. Solute carrier family GRCh38: Ensembl release 89: ENSG00000134538

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

schizophrenia. Numerous missense mutations in KALRN have been identified in exome sequencing studies of schizophrenia cohorts that are predicted to be deleterious

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

difficult to diagnose, and most individuals have been identified by exome sequencing. NGLY1 deficiency causes a dysfunction in the endoplasmic reticulum-associated

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

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

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

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

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

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

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

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

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

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

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

MT, Meisler MH, Goldstein DB (May 2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". J Med Genet. 49 (6): 353–61. doi:10

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

Kickstarter campaign to sell Tute interpreted whole genome and whole exome sequencing directly to consumers. The campaign was suspended within the same month

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

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

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

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

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

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

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

ocview/2734893339/se-2 (accessed July 19, 2024). "Whole Genome and Exome Sequencing Market Analysis 2023-2024 and 2027 with Executive and Consultant Guides

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

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

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

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

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 in multicase

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

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 in renal

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 Genetics

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

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

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

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

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. 42

Medicine. "Entrez Gene: zinc finger protein 644". Shi, Yi (2011). "Exome Sequencing Identifies ZNF644 Mutations in High Myopia". PLOS Genetics. 7 (6):

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

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

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

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

novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families". Cell Reports. 10

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

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

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

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

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

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

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

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

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

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.2013.06.013

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

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

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

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

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

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

PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ (January 2010). "Exome sequencing identifies the cause of a mendelian disorder". Nature Genetics. 42

definitive etiology by modern genetic testing. Progress in genome and exome sequencing is revealing that some individuals diagnosed with Lennox–Gastaut syndrome

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

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

PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ (January 2010). "Exome sequencing identifies the cause of a mendelian disorder". Nature Genetics. 42

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

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 with

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

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

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 kinesigenic

mutations in a targeted approach.[citation needed] A whole genome or whole exome sequencing approaches may be necessary to discover new mutations in tumor DNA

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

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 non-small

functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing". Ophthalmic Genetics. 42 (3): 291–295. doi:10.1080/13816810.2021.1888129

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

"Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient". Archives of Ophthalmology. 129 (9): 1212–7. doi:10

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

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

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

Stratton MR, Campbell PJ, El-Naggar AK, Futreal PA (2013). "Whole exome sequencing of adenoid cystic carcinoma". J Clin Invest. 123 (7): 2965–8. doi:10

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

de novo mutation in the IQSEC2 gene identified through diagnostic exome sequencing showed significant developmental delay, seizures, hypotonia, vision

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

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

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

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

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 osteoarthropathy"

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

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

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

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

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

Wucherpfennig currently serves on Enumeral's Scientific Advisory Board. Whole-exome sequencing. This technology, first unveiled in Nature Biotechnology in 2014, involves

"Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing". Journal of Medical Genetics. 48 (9): 606–9. doi:10.1136/jmg.2010

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

"New report offers a primer for doctors' use of clinical genome and exome sequencing". 2015-07-15. "Growing up Genomic: What Happens when You Know All a

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

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

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

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

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

symptoms, including rhabdomyolysis. Advances in genetic testing, such as exome sequencing and specific gene panels, can provide greater access to diagnoses for

"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

"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

AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (September 2011). "Exome sequencing as a tool for Mendelian disease gene discovery". Nature Reviews. Genetics

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

somatic mutation and copy number alteration discovery in cancer by exome sequencing". Genome Research. 22 (3): 568–576. doi:10.1101/gr.129684.111. PMC 3290792

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

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

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

Gibbs JR, Van Maldergem L, Houlden H, Singleton AB (October 2010). "Exome sequencing in Brown-Vialetto-van Laere syndrome". Am. J. Hum. Genet. 87 (4): 567–9

Meisler, M. H.; Goldstein, D. B. (2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". Journal of Medical Genetics. 49

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

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

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

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

PMID 993918. Opitz JM, Jorde LB (July 27, 2011). "Hamartoma Syndromes, Exome Sequencing, and a Protean Puzzle". The New England Journal of Medicine. 365 (7):

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

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

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

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 mutation

De Catte L, Deprest J, Devriendt K, Vermeesch JR (September 2014). "Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic

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 gene

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

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

systems and human malignancies. The false-negative rate of cancer exome sequencing is low—i.e.: the majority of neoantigens occur within exonic sequence

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

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

Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing". Annals of Laboratory Medicine. 34 (2): 134–138. doi:10.3343/alm.2014

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 Genetics

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

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

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

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

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

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"

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

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

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

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

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

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 neurodevelopmental

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

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

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

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

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

cost-effective than WGS, and because it allows for deeper sequencing. • Whole Exome Sequencing (WES): is a commonly used method which captures the majority of coding

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

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 family

J McMullan; Ruth Y Eberhardt; et al. (23 February 2019). "Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography

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

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 of gastric

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

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 fibroadenoma"

Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM (Feb 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. PMC 4036425

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

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 of autism"

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

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

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

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

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

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"

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

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 Genetics

Beaulieu CL, Schwartzentruber JA, Majewski J, et al. (July 2014). "Whole-exome sequencing in an individual with severe global developmental delay and intractable

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

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

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

somatic mutation and copy number alteration discovery in cancer by exome sequencing". Genome Research. 22 (3): 568–576. doi:10.1101/gr.129684.111. PMC 3290792

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

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

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

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

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

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

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

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

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

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

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

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 initially

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

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". Haematologica

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing". Eur J Hum Genet. 29: 122–130. doi:10.1038/s41431-020-0680-2. PMC 7852873

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

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

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

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

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

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

Weijuan; Dai, Lanlan; Liu, Xuanzhu; Yang, Ling; Wang, Jun (2013). "Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That

Stephani U, Pramstaller PP, Klein C, Lohmann K (November 2012). "Exome sequencing in a family with restless legs syndrome". Movement Disorders. 27 (13):

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

DA, Auclair D, Bochicchio J, et al. (August 2012). "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations". Nature. 488 (7409): 106–10

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

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

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

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

rare non-synonymous mutations for migraine without aura identified by exome sequencing". Journal of Neurogenetics. 29 (4): 188–194. doi:10.3109/01677063.2015

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

Sequencing Technology (NGS). Cancer mutanomes can be defined by comparing exome sequencing data obtained by NGS of individual healthy tissue with sequences from

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

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

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

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

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

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

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

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

Paul; Restagno, Gabriella; Chiò, Adriano; Traynor, Bryan J. (2010). "Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS". Neuron. 68 (5):

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

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

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

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

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

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

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

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

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

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

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

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 ZP1 genes

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

Erlich, Rachel L.; Greulich, Heidi (2012-08-02). "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations". Nature. 488 (7409): 106–110

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

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

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 Inguinal

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

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

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

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 disease

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

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

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

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

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

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

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

Renkens, Ivo; Terhal, Paulien A.; Kovel, Carolien de (2012-08-01). "X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual

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 to Crohn's

counterparts. In a study done in 2014, researchers undertook whole-exome sequencing on 91 Caucasian patients with severe adolescent idiopathic scoliosis

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

counterparts. In a study done in 2014, researchers undertook whole-exome sequencing on 91 Caucasian patients with severe adolescent idiopathic scoliosis

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.

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

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

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 disease

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

doi:10.2337/diabetes.53.2007.S31. PMID 14749263. Flannick (2019). "Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls". Nature. 570

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

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

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 in renal

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 inguinal

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

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

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

the International Consortium for Prostate Cancer Genetics on a whole exome sequencing study of families with strong family history of prostate cancer and

Balaji U, Baek G, Lin WC, Mansour J, et al. (April 2015). "Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets"

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

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"

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

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

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

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 osteoarthropathy"

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 inguinal

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

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

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

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

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

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 with

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

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

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"

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

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

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

conducted. Efforts are underway to develop diagnosis methods based on exome (sequencing all the protein-coding regions of the genes) and genome sequencing

conducted. Efforts are underway to develop diagnosis methods based on exome (sequencing all the protein-coding regions of the genes) and genome sequencing

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

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

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

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

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

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

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

(2020). "Accuracy of short tandem repeats genotyping tools in whole exome sequencing data". F1000Research. 9: 200. doi:10.12688/f1000research.22639.1. PMC 7327730

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

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

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

Shianna KV, McDonald MT, et al. (June 2012). "Clinical application of exome sequencing in undiagnosed genetic conditions". Journal of Medical Genetics. 49

Even though there is a high correlation of mutations between bulk exome sequencing and scGET-seq results, scGET-seq fails to capture all exome SNVs. Yan

functions of Naa15. Two damaging de novo NAA15 mutations were reported by exome sequencing in parent-offspring trios with congenital heart disease. Patient 1

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"

Yin, X.; Bao, L.; Tang, A.; Song, L.; He, W. (2012). "Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor"

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

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

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

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

cell isolation by a polymer nanofiber-embedded microchip for whole exome sequencing". Advanced Materials. 25 (21): 2897–902. Bibcode:2013AdM....25.2897Z

Abboud E, Al-Hazzaa SA, Alkuraya FS (February 2013). "Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel

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% of clear

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

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

Iacopetta, Barry (2012). "Gene discovery in familial cancer syndromes by exome sequencing: Prospects for the elucidation of familial colorectal cancer type X"

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