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searching for Exome sequencing 356 found (488 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

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

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

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

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

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

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

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"

involves genetic testing to identify pathogenic variants in AARS2. Whole exome sequencing (WES) or targeted gene panels for mitochondrial disorders are commonly

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype" (PDF)

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

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

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

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

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

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

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

blood, amniocentesis, or chorionic villus sampling, can undergo whole-exome sequencing to confirm the presence of an IRF6 gene mutation. In cases where a

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

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

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

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

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

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

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

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

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

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

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

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

"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

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

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"

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

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

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

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

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

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

"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

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

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

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): 606–609. doi:10.1136/jmg.2010

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

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

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

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

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

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

"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

"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

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

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

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

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

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

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

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

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

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

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

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):

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

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

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

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

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

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

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

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

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

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

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

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

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

Walters JT, Wang W, Watts A, Yolken R, Zandi PP, Neale BM (2022). "Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia"

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

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

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"

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

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

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

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

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

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

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

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

Chitayat, D.; Deladoëy, J.; Fernandez, B.a. (2016). "Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps

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

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

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

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

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

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

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

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

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

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

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"

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

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

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

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"

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

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"

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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. doi:10

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

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

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

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

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

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

G.; Abdelmoity, Ahmed T. G.; Kingsmore, Stephen F. (2013-09-04). "Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin

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

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

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

psychiatric challenges. The syndrome was first recognized through exome sequencing studies and has since been documented in several hundred individuals

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

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

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

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

analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing". Orphanet Journal of Rare Diseases. 19 (1): 330. doi:10.1186/s13023-024-03340-5

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

McNaughton AJ, Taylor S, Hudson ML, Liu X, et al. (March 2020). "Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism"

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

biochemical phenotype and request their samples for high level whole exome sequencing and biobanking. The annual report highlighted work done by the faculty

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

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

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

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

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

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

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

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

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

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

non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing". European Journal of Human Genetics. 24 (11): 1635–1638. doi:10.1038/ejhg

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

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

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

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

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

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

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

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"

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

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

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

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

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

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

associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study". Lancet. 380 (9854). London, England: 1674–1682. doi:10

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

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

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

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

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

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

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

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"

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

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

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"

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

drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing". Saudi Journal of Biological Sciences. 28 (1): 628–634. Bibcode:2021SJBS

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

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

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

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

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

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

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

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

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

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

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

characterized by a relatively low mutational burden. Whole-genome and whole-exome sequencing studies have demonstrated a mean of 13 non-synonymous mutations per

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"

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

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

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

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

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

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

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

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

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

common epilepsies. Nature Communications 2018 Dec 10; 9(1):5269 Epi25. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare

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

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"

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

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

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

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

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

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

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

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