419 related articles for article (PubMed ID: 26602380)
1. Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.
Cherukuri PF; Maduro V; Fuentes-Fajardo KV; Lam K; ; Adams DR; Tifft CJ; Mullikin JC; Gahl WA; Boerkoel CF
BMC Genomics; 2015 Nov; 16():998. PubMed ID: 26602380
[TBL] [Abstract][Full Text] [Related]
2. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
Lelieveld SH; Spielmann M; Mundlos S; Veltman JA; Gilissen C
Hum Mutat; 2015 Aug; 36(8):815-22. PubMed ID: 25973577
[TBL] [Abstract][Full Text] [Related]
3. High throughput exome coverage of clinically relevant cardiac genes.
Manase D; D'Alessandro LC; Manickaraj AK; Al Turki S; Hurles ME; Mital S
BMC Med Genomics; 2014 Dec; 7():67. PubMed ID: 25496018
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A; Harris J; Leng N; Bartha G; Church DM; Luo S; Haudenschild C; Pratt M; Zook J; Salit M; Tirch J; Morra M; Chervitz S; Li M; Clark M; Garcia S; Chandratillake G; Kirk S; Ashley E; Snyder M; Altman R; Bustamante C; Butte AJ; West J; Chen R
Genome Med; 2015; 7(1):71. PubMed ID: 26269718
[TBL] [Abstract][Full Text] [Related]
7. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.
Zare F; Dow M; Monteleone N; Hosny A; Nabavi S
BMC Bioinformatics; 2017 May; 18(1):286. PubMed ID: 28569140
[TBL] [Abstract][Full Text] [Related]
11. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.
Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM
Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Medical implications of technical accuracy in genome sequencing.
Goldfeder RL; Priest JR; Zook JM; Grove ME; Waggott D; Wheeler MT; Salit M; Ashley EA
Genome Med; 2016 Mar; 8(1):24. PubMed ID: 26932475
[TBL] [Abstract][Full Text] [Related]
14. Evaluation of somatic copy number estimation tools for whole-exome sequencing data.
Nam JY; Kim NK; Kim SC; Joung JG; Xi R; Lee S; Park PJ; Park WY
Brief Bioinform; 2016 Mar; 17(2):185-92. PubMed ID: 26210357
[TBL] [Abstract][Full Text] [Related]
15. New insights into the performance of human whole-exome capture platforms.
Meienberg J; Zerjavic K; Keller I; Okoniewski M; Patrignani A; Ludin K; Xu Z; Steinmann B; Carrel T; Röthlisberger B; Schlapbach R; Bruggmann R; Matyas G
Nucleic Acids Res; 2015 Jun; 43(11):e76. PubMed ID: 25820422
[TBL] [Abstract][Full Text] [Related]
16. Can whole-exome sequencing data be used for linkage analysis?
Gazal S; Gosset S; Verdura E; Bergametti F; Guey S; Babron MC; Tournier-Lasserve E
Eur J Hum Genet; 2016 Apr; 24(4):581-6. PubMed ID: 26173971
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
Hamilton A; Tétreault M; Dyment DA; Zou R; Kernohan K; Geraghty MT; ; ; Hartley T; Boycott KM
Mol Genet Genomic Med; 2016 Sep; 4(5):504-12. PubMed ID: 27652278
[TBL] [Abstract][Full Text] [Related]
19. Enhanced whole exome sequencing by higher DNA insert lengths.
Pommerenke C; Geffers R; Bunk B; Bhuju S; Eberth S; Drexler HG; Quentmeier H
BMC Genomics; 2016 May; 17():399. PubMed ID: 27225215
[TBL] [Abstract][Full Text] [Related]
20. Next-generation diagnostics: gene panel, exome, or whole genome?
Sun Y; Ruivenkamp CA; Hoffer MJ; Vrijenhoek T; Kriek M; van Asperen CJ; den Dunnen JT; Santen GW
Hum Mutat; 2015 Jun; 36(6):648-55. PubMed ID: 25772376
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
