171 related articles for article (PubMed ID: 34016036)
1. WEScover: selection between clinical whole exome sequencing and gene panel testing.
Lee IH; Lin Y; Alvarez WJ; Hernandez-Ferrer C; Mandl KD; Kong SW
BMC Bioinformatics; 2021 May; 22(1):259. PubMed ID: 34016036
[TBL] [Abstract][Full Text] [Related]
2. Measuring coverage and accuracy of whole-exome sequencing in clinical context.
Kong SW; Lee IH; Liu X; Hirschhorn JN; Mandl KD
Genet Med; 2018 Dec; 20(12):1617-1626. PubMed ID: 29789557
[TBL] [Abstract][Full Text] [Related]
3. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
[TBL] [Abstract][Full Text] [Related]
4. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
Pranckeviciene E; Racacho L; Ghani M; Nfonsam L; Potter R; Sinclair-Bourque E; Mettler G; Smith A; Bronicki L; Huang L; Jarinova O
Hum Genet; 2021 Feb; 140(2):289-297. PubMed ID: 32627054
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.
Wang Q; Shashikant CS; Jensen M; Altman NS; Girirajan S
Sci Rep; 2017 Apr; 7(1):885. PubMed ID: 28408746
[TBL] [Abstract][Full Text] [Related]
10. Whole exome sequencing in the rat.
Foley JF; Phadke DP; Hardy O; Hardy S; Miller V; Madan A; Howard K; Kruse K; Lord C; Ramaiahgari S; Solomon GG; Shah RR; Pandiri AR; Herbert RA; Sills RC; Merrick BA
BMC Genomics; 2018 Jun; 19(1):487. PubMed ID: 29925311
[TBL] [Abstract][Full Text] [Related]
11. Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Cho A; Lima de Carvalho JR; Tanaka AJ; Jauregui R; Levi SR; Bassuk AG; Mahajan VB; Tsang SH
Orphanet J Rare Dis; 2020 Jan; 15(1):32. PubMed ID: 32000842
[TBL] [Abstract][Full Text] [Related]
12. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage.
Barbitoff YA; Polev DE; Glotov AS; Serebryakova EA; Shcherbakova IV; Kiselev AM; Kostareva AA; Glotov OS; Predeus AV
Sci Rep; 2020 Feb; 10(1):2057. PubMed ID: 32029882
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Stubbs A; McClellan EA; Horsman S; Hiltemann SD; Palli I; Nouwens S; Koning AH; Hoogland F; Reumers J; Heijsman D; Swagemakers S; Kremer A; Meijerink J; Lambrechts D; van der Spek PJ
J Clin Bioinforma; 2012 Nov; 2(1):19. PubMed ID: 23164068
[TBL] [Abstract][Full Text] [Related]
15. [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].
Liu XZ; Li YY; Yang LP
Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):836-844. PubMed ID: 33047716
[TBL] [Abstract][Full Text] [Related]
16. Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.
Khateb S; Hanany M; Khalaileh A; Beryozkin A; Meyer S; Abu-Diab A; Abu Turky F; Mizrahi-Meissonnier L; Lieberman S; Ben-Yosef T; Banin E; Sharon D
J Med Genet; 2016 Sep; 53(9):600-7. PubMed ID: 27208209
[TBL] [Abstract][Full Text] [Related]
17. Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Yu H; Yu H; Zhang R; Peng D; Yan D; Gu Y; Bao Y; Jia W; Zhang H; Hu C
J Mol Cell Biol; 2023 Nov; 15(6):. PubMed ID: 37327085
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E; Topf A; Barresi R; Hudson J; Powell H; Tellez J; Hicks D; Porter A; Bertoli M; Evangelista T; Marini-Betollo C; Magnússon Ó; Lek M; MacArthur D; Bushby K; Lochmüller H; Straub V
Orphanet J Rare Dis; 2017 Sep; 12(1):151. PubMed ID: 28877744
[TBL] [Abstract][Full Text] [Related]
20. Clinical sequencing: is WGS the better WES?
Meienberg J; Bruggmann R; Oexle K; Matyas G
Hum Genet; 2016 Mar; 135(3):359-62. PubMed ID: 26742503
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]