395 related articles for article (PubMed ID: 32000839)
1. A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
Rajagopalan R; Murrell JR; Luo M; Conlin LK
Genome Med; 2020 Jan; 12(1):14. PubMed ID: 32000839
[TBL] [Abstract][Full Text] [Related]
2. CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
Royer-Bertrand B; Cisarova K; Niel-Butschi F; Mittaz-Crettol L; Fodstad H; Superti-Furga A
Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573409
[TBL] [Abstract][Full Text] [Related]
3. Validation of copy number variation analysis for next-generation sequencing diagnostics.
Ellingford JM; Campbell C; Barton S; Bhaskar S; Gupta S; Taylor RL; Sergouniotis PI; Horn B; Lamb JA; Michaelides M; Webster AR; Newman WG; Panda B; Ramsden SC; Black GC
Eur J Hum Genet; 2017 Jun; 25(6):719-724. PubMed ID: 28378820
[TBL] [Abstract][Full Text] [Related]
4. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV; Ghosh R; Yuan B; Liu P; Dai H; Al Masri S; Scull J; Posey JE; Jiang AH; He W; Vetrini F; Braxton AA; Ward P; Chiang T; Qu C; Gu S; Shaw CA; Smith JL; Lalani S; Stankiewicz P; Cheung SW; Bacino CA; Patel A; Breman AM; Wang X; Meng L; Xiao R; Xia F; Muzny D; Gibbs RA; Beaudet AL; Eng CM; Lupski JR; Yang Y; Bi W
Genome Med; 2019 May; 11(1):30. PubMed ID: 31101064
[TBL] [Abstract][Full Text] [Related]
5. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G; Sanchis-Juan A; Russell K; Baxter S; Chao KR; Singer-Berk M; Groopman E; Wong I; England E; Goodrich J; Pais L; Austin-Tse C; DiTroia S; O'Heir E; Ganesh VS; Wojcik MH; Evangelista E; Snow H; Osei-Owusu I; Fu J; Singh M; Mostovoy Y; Huang S; Garimella K; Kirkham SL; Neil JE; Shao DD; Walsh CA; Argilli E; Le C; Sherr EH; Gleeson JG; Shril S; Schneider R; Hildebrandt F; Sankaran VG; Madden JA; Genetti CA; Beggs AH; Agrawal PB; Bujakowska KM; Place E; Pierce EA; Donkervoort S; Bönnemann CG; Gallacher L; Stark Z; Tan TY; White SM; Töpf A; Straub V; Fleming MD; Pollak MR; Õunap K; Pajusalu S; Donald KA; Bruwer Z; Ravenscroft G; Laing NG; MacArthur DG; Rehm HL; Talkowski ME; Brand H; O'Donnell-Luria A
Am J Hum Genet; 2024 May; 111(5):863-876. PubMed ID: 38565148
[TBL] [Abstract][Full Text] [Related]
6. Identification of copy number variants from exome sequence data.
Samarakoon PS; Sorte HS; Kristiansen BE; Skodje T; Sheng Y; Tjønnfjord GE; Stadheim B; Stray-Pedersen A; Rødningen OK; Lyle R
BMC Genomics; 2014 Aug; 15(1):661. PubMed ID: 25102989
[TBL] [Abstract][Full Text] [Related]
7. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Plagnol V; Curtis J; Epstein M; Mok KY; Stebbings E; Grigoriadou S; Wood NW; Hambleton S; Burns SO; Thrasher AJ; Kumararatne D; Doffinger R; Nejentsev S
Bioinformatics; 2012 Nov; 28(21):2747-54. PubMed ID: 22942019
[TBL] [Abstract][Full Text] [Related]
8. Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN; Marinakis NM; Veltra D; Svingou M; Kekou K; Mitrakos A; Tzetis M; Kosma K; Makrythanasis P; Traeger-Synodinos J; Sofocleous C
Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510394
[TBL] [Abstract][Full Text] [Related]
9. Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing.
Filer DL; Kuo F; Brandt AT; Tilley CR; Mieczkowski PA; Berg JS; Robasky K; Li Y; Bizon C; Tilson JL; Powell BC; Bost DM; Jeffries CD; Wilhelmsen KC
BMC Bioinformatics; 2021 Jul; 22(1):374. PubMed ID: 34284719
[TBL] [Abstract][Full Text] [Related]
10. Free-access copy-number variant detection tools for targeted next-generation sequencing data.
Roca I; González-Castro L; Fernández H; Couce ML; Fernández-Marmiesse A
Mutat Res Rev Mutat Res; 2019; 779():114-125. PubMed ID: 31097148
[TBL] [Abstract][Full Text] [Related]
11. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
Villela D; Costa SS; Vianna-Morgante AM; Krepischi ACV; Rosenberg C
Eur J Med Genet; 2017 Dec; 60(12):667-674. PubMed ID: 28882788
[TBL] [Abstract][Full Text] [Related]
12. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Quenez O; Cassinari K; Coutant S; Lecoquierre F; Le Guennec K; Rousseau S; Richard AC; Vasseur S; Bouvignies E; Bou J; Lienard G; Manase S; Fourneaux S; Drouot N; Nguyen-Viet V; Vezain M; Chambon P; Joly-Helas G; Le Meur N; Castelain M; Boland A; Deleuze JF; ; Tournier I; Charbonnier F; Kasper E; Bougeard G; Frebourg T; Saugier-Veber P; Baert-Desurmont S; Campion D; Rovelet-Lecrux A; Nicolas G
Eur J Hum Genet; 2021 Jan; 29(1):99-109. PubMed ID: 32591635
[TBL] [Abstract][Full Text] [Related]
13. Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F; Duffourd Y; Vitobello A; Bruel AL; Denommé-Pichon AS; Nambot S; Delanne J; Moutton S; Sorlin A; ; Couturier V; Bourgeois V; Chevarin M; Poe C; Mosca-Boidron AL; Callier P; Safraou H; Faivre L; Philippe C; Thauvin-Robinet C
Mol Genet Genomic Med; 2021 Dec; 9(12):e1836. PubMed ID: 34716697
[TBL] [Abstract][Full Text] [Related]
14. Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders-an important consideration for resource-constrained settings.
Louw N; Carstens N; Lombard Z;
Front Genet; 2023; 14():1277784. PubMed ID: 38155715
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of copy number variant detection from panel-based next-generation sequencing data.
Yao R; Yu T; Qing Y; Wang J; Shen Y
Mol Genet Genomic Med; 2019 Jan; 7(1):e00513. PubMed ID: 30565893
[TBL] [Abstract][Full Text] [Related]
16. Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic.
Greer SU; Botello J; Hongo D; Levy B; Shah P; Rabinowitz M; Miller DE; Im K; Kumar A
J Transl Med; 2023 Jun; 21(1):378. PubMed ID: 37301971
[TBL] [Abstract][Full Text] [Related]
17. Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy.
Lopes LR; Murphy C; Syrris P; Dalageorgou C; McKenna WJ; Elliott PM; Plagnol V
Eur J Med Genet; 2015 Nov; 58(11):611-6. PubMed ID: 26455666
[TBL] [Abstract][Full Text] [Related]
18. The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Xiang J; Peng J; Sun X; Lin Z; Li D; Ye H; Wang S; Bai Y; Wang X; Du P; Gao Y; Sun J; Pan S; Peng Z
Clin Chem; 2023 Jul; 69(7):763-770. PubMed ID: 37207672
[TBL] [Abstract][Full Text] [Related]
19. Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.
Tan R; Shen Y
Nucleic Acids Res; 2022 Nov; 50(21):e123. PubMed ID: 36124672
[TBL] [Abstract][Full Text] [Related]
20. Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E; Kerkhof J; Carere DA; Volodarsky M; Bhai P; Colaiacovo S; Saleh M; Caudle M; Karp N; Prasad C; Balci T; Lin H; Campbell C; Siu VM; Sadikovic B
J Hum Genet; 2021 May; 66(5):451-464. PubMed ID: 33093641
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]