181 related articles for article (PubMed ID: 35854218)
1. Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data.
O'Fallon B; Durtschi J; Kellogg A; Lewis T; Close D; Best H
BMC Bioinformatics; 2022 Jul; 23(1):285. PubMed ID: 35854218
[TBL] [Abstract][Full Text] [Related]
2. Assessing the reproducibility of exome copy number variations predictions.
Hong CS; Singh LN; Mullikin JC; Biesecker LG
Genome Med; 2016 Aug; 8(1):82. PubMed ID: 27503473
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Copy number variation detection using next generation sequencing read counts.
Wang H; Nettleton D; Ying K
BMC Bioinformatics; 2014 Apr; 15():109. PubMed ID: 24731174
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. On the core segmentation algorithms of copy number variation detection tools.
Zhang Y; Liu W; Duan J
Brief Bioinform; 2024 Jan; 25(2):. PubMed ID: 38340093
[TBL] [Abstract][Full Text] [Related]
8. Genome-wide algorithm for detecting CNV associations with diseases.
Xu Y; Peng B; Fu Y; Amos CI
BMC Bioinformatics; 2011 Aug; 12():331. PubMed ID: 21827692
[TBL] [Abstract][Full Text] [Related]
9. Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.
Välipakka S; Savarese M; Sagath L; Arumilli M; Giugliano T; Udd B; Hackman P
J Mol Diagn; 2020 Jan; 22(1):40-49. PubMed ID: 31733349
[TBL] [Abstract][Full Text] [Related]
10. CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.
Onsongo G; Baughn LB; Bower M; Henzler C; Schomaker M; Silverstein KA; Thyagarajan B
J Mol Diagn; 2016 Nov; 18(6):872-881. PubMed ID: 27597741
[TBL] [Abstract][Full Text] [Related]
11. PSE-HMM: genome-wide CNV detection from NGS data using an HMM with Position-Specific Emission probabilities.
Malekpour SA; Pezeshk H; Sadeghi M
BMC Bioinformatics; 2016 Nov; 18(1):30. PubMed ID: 27809781
[TBL] [Abstract][Full Text] [Related]
12. DL-CNV: A deep learning method for identifying copy number variations based on next generation target sequencing.
Zhang YX; Jin LC; Wang B; Hu H; Wang LQ; Li P; Zhang JL; Han K; Tian G; Yuan DW; Yang JL; Tan W; Xing XM; Lang JD
Math Biosci Eng; 2019 Sep; 17(1):202-215. PubMed ID: 31731347
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
Agiannitopoulos K; Pepe G; Tsaousis GN; Potska K; Bouzarelou D; Katseli A; Ntogka C; Meintani A; Tsoulos N; Giassas S; Venizelos V; Markopoulos C; Iosifidou R; Karageorgopoulou S; Christodoulou C; Natsiopoulos I; Papazisis K; Vasilaki-Antonatou M; Kabletsas E; Psyrri A; Ziogas D; Lalla E; Koumarianou A; Anastasakou K; Papadimitriou C; Ozmen V; Tansan S; Kaban K; Ozatli T; Eniu DT; Chiorean A; Blidaru A; Rinsma M; Papadopoulou E; Nasioulas G
Cancer Genomics Proteomics; 2023; 20(5):448-455. PubMed ID: 37643779
[TBL] [Abstract][Full Text] [Related]
17. Quantifying copy number variations using a hidden Markov model with inhomogeneous emission distributions.
McCallum KJ; Wang JP
Biostatistics; 2013 Jul; 14(3):600-11. PubMed ID: 23428932
[TBL] [Abstract][Full Text] [Related]
18. Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples.
Won D; Yeom E; Shin S; Lee ST; Rak Choi J
Clin Chim Acta; 2024 Jun; 560():119703. PubMed ID: 38763467
[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. MGP-HMM: Detecting genome-wide CNVs using an HMM for modeling mate pair insertion sizes and read counts.
Malekpour SA; Pezeshk H; Sadeghi M
Math Biosci; 2016 Sep; 279():53-62. PubMed ID: 27424951
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]