236 related articles for article (PubMed ID: 35247967)
1. CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage.
Kuśmirek W; Nowak R
BMC Bioinformatics; 2022 Mar; 23(1):85. PubMed ID: 35247967
[TBL] [Abstract][Full Text] [Related]
2. Different Strategies for Counting the Depth of Coverage in Copy Number Variation Calling Tools.
Kuśmirek W
Bioinform Biol Insights; 2022; 16():11779322221115534. PubMed ID: 35935530
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance.
Kuśmirek W; Szmurło A; Wiewiórka M; Nowak R; Gambin T
BMC Bioinformatics; 2019 May; 20(1):266. PubMed ID: 31138108
[TBL] [Abstract][Full Text] [Related]
5. CODEX: a normalization and copy number variation detection method for whole exome sequencing.
Jiang Y; Oldridge DA; Diskin SJ; Zhang NR
Nucleic Acids Res; 2015 Mar; 43(6):e39. PubMed ID: 25618849
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Detection of clinically relevant copy number variants with whole-exome sequencing.
de Ligt J; Boone PM; Pfundt R; Vissers LE; Richmond T; Geoghegan J; O'Moore K; de Leeuw N; Shaw C; Brunner HG; Lupski JR; Veltman JA; Hehir-Kwa JY
Hum Mutat; 2013 Oct; 34(10):1439-48. PubMed ID: 23893877
[TBL] [Abstract][Full Text] [Related]
9. An evaluation of copy number variation detection tools from whole-exome sequencing data.
Tan R; Wang Y; Kleinstein SE; Liu Y; Zhu X; Guo H; Jiang Q; Allen AS; Zhu M
Hum Mutat; 2014 Jul; 35(7):899-907. PubMed ID: 24599517
[TBL] [Abstract][Full Text] [Related]
10. Exome sequence read depth methods for identifying copy number changes.
Kadalayil L; Rafiq S; Rose-Zerilli MJ; Pengelly RJ; Parker H; Oscier D; Strefford JC; Tapper WJ; Gibson J; Ennis S; Collins A
Brief Bioinform; 2015 May; 16(3):380-92. PubMed ID: 25169955
[TBL] [Abstract][Full Text] [Related]
11. Modeling read counts for CNV detection in exome sequencing data.
Love MI; Myšičková A; Sun R; Kalscheuer V; Vingron M; Haas SA
Stat Appl Genet Mol Biol; 2011 Nov; 10(1):. PubMed ID: 23089826
[TBL] [Abstract][Full Text] [Related]
12. CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
Rapti M; Zouaghi Y; Meylan J; Ranza E; Antonarakis SE; Santoni FA
Brief Bioinform; 2022 Mar; 23(2):. PubMed ID: 35224620
[TBL] [Abstract][Full Text] [Related]
13. Polishing copy number variant calls on exome sequencing data via deep learning.
Özden F; Alkan C; Çiçek AE
Genome Res; 2022 Jun; 32(6):1170-1182. PubMed ID: 35697522
[TBL] [Abstract][Full Text] [Related]
14. CopyDetective: Detection threshold-aware copy number variant calling in whole-exome sequencing data.
Sandmann S; Wöste M; de Graaf AO; Burkhardt B; Jansen JH; Dugas M
Gigascience; 2020 Nov; 9(11):. PubMed ID: 33135740
[TBL] [Abstract][Full Text] [Related]
15. Noise cancellation using total variation for copy number variation detection.
Zare F; Hosny A; Nabavi S
BMC Bioinformatics; 2018 Oct; 19(Suppl 11):361. PubMed ID: 30343665
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q; Vanhoye X; Yauy K; Naud ME; Vieville G; Rousseau F; Dauriat B; Marquet V; Bourthoumieu S; Geneviève D; Gatinois V; Wells C; Willems M; Coubes C; Pinson L; Dard R; Tessier A; Hervé B; Vialard F; Harzallah I; Touraine R; Cogné B; Deb W; Besnard T; Pichon O; Laudier B; Mesnard L; Doreille A; Busa T; Missirian C; Satre V; Coutton C; Celse T; Harbuz R; Raymond L; Taly JF; Thevenon J
J Med Genet; 2022 Dec; 59(12):1234-1240. PubMed ID: 36137615
[TBL] [Abstract][Full Text] [Related]
18. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.
Fromer M; Moran JL; Chambert K; Banks E; Bergen SE; Ruderfer DM; Handsaker RE; McCarroll SA; O'Donovan MC; Owen MJ; Kirov G; Sullivan PF; Hultman CM; Sklar P; Purcell SM
Am J Hum Genet; 2012 Oct; 91(4):597-607. PubMed ID: 23040492
[TBL] [Abstract][Full Text] [Related]
19. Comparative study of whole exome sequencing-based copy number variation detection tools.
Zhao L; Liu H; Yuan X; Gao K; Duan J
BMC Bioinformatics; 2020 Mar; 21(1):97. PubMed ID: 32138645
[TBL] [Abstract][Full Text] [Related]
20. Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
Marchuk DS; Crooks K; Strande N; Kaiser-Rogers K; Milko LV; Brandt A; Arreola A; Tilley CR; Bizon C; Vora NL; Wilhelmsen KC; Evans JP; Berg JS
PLoS One; 2018; 13(12):e0209185. PubMed ID: 30557390
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]