173 related articles for article (PubMed ID: 34016036)
21. Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.
Salma M; Alaterre E; Moreaux J; Soler E
Epigenetics Chromatin; 2023 Jun; 16(1):23. PubMed ID: 37312221
[TBL] [Abstract][Full Text] [Related]
22. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
[TBL] [Abstract][Full Text] [Related]
23. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Li MH; Abrudan JL; Dulik MC; Sasson A; Brunton J; Jayaraman V; Dugan N; Haley D; Rajagopalan R; Biswas S; Sarmady M; DeChene ET; Deardorff MA; Wilkens A; Noon SE; Scarano MI; Santani AB; White PS; Pennington J; Conlin LK; Spinner NB; Krantz ID; Vetter VL
Hum Genomics; 2015 Jul; 9(1):15. PubMed ID: 26187847
[TBL] [Abstract][Full Text] [Related]
24. Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples.
Huang Y; Xiao Y; Qu S; Xue J; Zhang L; Wang L; Liang W
BMC Genomics; 2024 Feb; 25(1):142. PubMed ID: 38317084
[TBL] [Abstract][Full Text] [Related]
25. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
[TBL] [Abstract][Full Text] [Related]
26. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
Amiri-Yekta A; Coutton C; Kherraf ZE; Karaouzène T; Le Tanno P; Sanati MH; Sabbaghian M; Almadani N; Sadighi Gilani MA; Hosseini SH; Bahrami S; Daneshipour A; Bini M; Arnoult C; Colombo R; Gourabi H; Ray PF
Hum Reprod; 2016 Dec; 31(12):2872-2880. PubMed ID: 27798045
[TBL] [Abstract][Full Text] [Related]
27. The promise of whole-exome sequencing in medical genetics.
Rabbani B; Tekin M; Mahdieh N
J Hum Genet; 2014 Jan; 59(1):5-15. PubMed ID: 24196381
[TBL] [Abstract][Full Text] [Related]
28. Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.
Bertier G; Hétu M; Joly Y
BMC Med Genomics; 2016 Aug; 9(1):52. PubMed ID: 27514372
[TBL] [Abstract][Full Text] [Related]
29. Whole-Exome Sequencing (WES) for Illumina Short Read Sequencers Using Solution-Based Capture.
Mahajan MC; McLellan AS
Methods Mol Biol; 2020; 2076():85-108. PubMed ID: 31586323
[TBL] [Abstract][Full Text] [Related]
30. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
[TBL] [Abstract][Full Text] [Related]
31. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Kalsner L; Twachtman-Bassett J; Tokarski K; Stanley C; Dumont-Mathieu T; Cotney J; Chamberlain S
Mol Genet Genomic Med; 2018 Mar; 6(2):171-185. PubMed ID: 29271092
[TBL] [Abstract][Full Text] [Related]
32. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
[TBL] [Abstract][Full Text] [Related]
33. Genomic landscape of colorectal cancer in Japan: clinical implications of comprehensive genomic sequencing for precision medicine.
Nagahashi M; Wakai T; Shimada Y; Ichikawa H; Kameyama H; Kobayashi T; Sakata J; Yagi R; Sato N; Kitagawa Y; Uetake H; Yoshida K; Oki E; Kudo SE; Izutsu H; Kodama K; Nakada M; Tse J; Russell M; Heyer J; Powers W; Sun R; Ring JE; Takabe K; Protopopov A; Ling Y; Okuda S; Lyle S
Genome Med; 2016 Dec; 8(1):136. PubMed ID: 28007036
[TBL] [Abstract][Full Text] [Related]
34. Implementation of whole-exome sequencing for pharmacogenomics profiling and exploring its potential clinical utilities.
Wang D; Bolleddula J; Coenen-Stass A; Grombacher T; Dong JQ; Scheuenpflug J; Locatelli G; Feng Z
Pharmacogenomics; 2024 Mar; 25(4):197-206. PubMed ID: 38511470
[TBL] [Abstract][Full Text] [Related]
35. Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
Burgos M; Arenas A; Cabrera R
Mol Diagn Ther; 2016 Aug; 20(4):353-62. PubMed ID: 27251404
[TBL] [Abstract][Full Text] [Related]
36. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Bestetti I; Barbieri C; Sironi A; Specchia V; Yatsenko SA; De Donno MD; Caslini C; Gentilini D; Crippa M; Larizza L; Marozzi A; Rajkovic A; Toniolo D; Bozzetti MP; Finelli P
Hum Reprod; 2021 Oct; 36(11):2975-2991. PubMed ID: 34480478
[TBL] [Abstract][Full Text] [Related]
37. Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer.
O'Brien TD; Jia P; Xia J; Saxena U; Jin H; Vuong H; Kim P; Wang Q; Aryee MJ; Mino-Kenudson M; Engelman JA; Le LP; Iafrate AJ; Heist RS; Pao W; Zhao Z
Methods; 2015 Jul; 83():118-27. PubMed ID: 25913717
[TBL] [Abstract][Full Text] [Related]
38. A domestic cat whole exome sequencing resource for trait discovery.
Rodney AR; Buckley RM; Fulton RS; Fronick C; Richmond T; Helps CR; Pantke P; Trent DJ; Vernau KM; Munday JS; Lewin AC; Middleton R; Lyons LA; Warren WC
Sci Rep; 2021 Mar; 11(1):7159. PubMed ID: 33785770
[TBL] [Abstract][Full Text] [Related]
39. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose M; Isik E; Aykut A; Durmaz A; Kose E; Ersoy M; Diniz G; Adebali O; Ünalp A; Yilmaz Ü; Karaoğlu P; Edizer S; Tekin HG; Özdemir TR; Atik T; Onay H; Özkınay F
J Pediatr Endocrinol Metab; 2021 Apr; 34(4):417-430. PubMed ID: 33629572
[TBL] [Abstract][Full Text] [Related]
40. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL; Karaca E; Coban Akdemir Z; Gambin T; Atik MM; Gu S; Posey JE; Jhangiani SN; Muzny DM; Doddapaneni H; Hu J; Boerwinkle E; Gibbs RA; Rosenfeld JA; Cui H; Xia F; Manickam K; Yang Y; Faqeih EA; Al Asmari A; Saleh MA; El-Hattab AW; Lupski JR
BMC Med Genomics; 2016 Jul; 9(1):42. PubMed ID: 27435318
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
