244 related articles for article (PubMed ID: 30563988)
1. Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.
Mu W; Li B; Wu S; Chen J; Sain D; Xu D; Black MH; Karam R; Gillespie K; Farwell Hagman KD; Guidugli L; Pronold M; Elliott A; Lu HM
Genet Med; 2019 Jul; 21(7):1603-1610. PubMed ID: 30563988
[TBL] [Abstract][Full Text] [Related]
2. Comparison of multiple algorithms to reliably detect structural variants in pears.
Liu Y; Zhang M; Sun J; Chang W; Sun M; Zhang S; Wu J
BMC Genomics; 2020 Jan; 21(1):61. PubMed ID: 31959124
[TBL] [Abstract][Full Text] [Related]
3. Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing.
Mancini-DiNardo D; Judkins T; Kidd J; Bernhisel R; Daniels C; Brown K; Meek K; Craft J; Holladay J; Morris B; Roa BB
BMC Med Genomics; 2019 Oct; 12(1):138. PubMed ID: 31623605
[TBL] [Abstract][Full Text] [Related]
4. Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies.
Talsania K; Shen TW; Chen X; Jaeger E; Li Z; Chen Z; Chen W; Tran B; Kusko R; Wang L; Pang AWC; Yang Z; Choudhari S; Colgan M; Fang LT; Carroll A; Shetty J; Kriga Y; German O; Smirnova T; Liu T; Li J; Kellman B; Hong K; Hastie AR; Natarajan A; Moshrefi A; Granat A; Truong T; Bombardi R; Mankinen V; Meerzaman D; Mason CE; Collins J; Stahlberg E; Xiao C; Wang C; Xiao W; Zhao Y
Genome Biol; 2022 Dec; 23(1):255. PubMed ID: 36514120
[TBL] [Abstract][Full Text] [Related]
5. Gustaf: Detecting and correctly classifying SVs in the NGS twilight zone.
Trappe K; Emde AK; Ehrlich HC; Reinert K
Bioinformatics; 2014 Dec; 30(24):3484-90. PubMed ID: 25028727
[TBL] [Abstract][Full Text] [Related]
6. Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.
Mu W; Lu HM; Chen J; Li S; Elliott AM
J Mol Diagn; 2016 Nov; 18(6):923-932. PubMed ID: 27720647
[TBL] [Abstract][Full Text] [Related]
7. MetaSV: an accurate and integrative structural-variant caller for next generation sequencing.
Mohiyuddin M; Mu JC; Li J; Bani Asadi N; Gerstein MB; Abyzov A; Wong WH; Lam HY
Bioinformatics; 2015 Aug; 31(16):2741-4. PubMed ID: 25861968
[TBL] [Abstract][Full Text] [Related]
8. Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.
van den Akker J; Hon L; Ondov A; Mahkovec Z; O'Connor R; Chan RC; Lock J; Zimmer AD; Rostamianfar A; Ginsberg J; Leon A; Topper S
J Mol Diagn; 2021 May; 23(5):612-629. PubMed ID: 33621668
[TBL] [Abstract][Full Text] [Related]
9. Detection of somatic structural variants from short-read next-generation sequencing data.
Gong T; Hayes VM; Chan EKF
Brief Bioinform; 2021 May; 22(3):. PubMed ID: 32379294
[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. svclassify: a method to establish benchmark structural variant calls.
Parikh H; Mohiyuddin M; Lam HY; Iyer H; Chen D; Pratt M; Bartha G; Spies N; Losert W; Zook JM; Salit M
BMC Genomics; 2016 Jan; 17():64. PubMed ID: 26772178
[TBL] [Abstract][Full Text] [Related]
12. Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.
Guzel F; Romano M; Keles E; Piskin D; Ozen S; Poyrazoglu H; Kasapcopur O; Demirkaya E
Front Immunol; 2021; 12():666273. PubMed ID: 34177904
[TBL] [Abstract][Full Text] [Related]
13. Structural variation detection using next-generation sequencing data: A comparative technical review.
Guan P; Sung WK
Methods; 2016 Jun; 102():36-49. PubMed ID: 26845461
[TBL] [Abstract][Full Text] [Related]
14. Systematic evaluation of multiple NGS platforms for structural variants detection.
Meng X; Wang M; Luo M; Sun L; Yan Q; Liu Y
J Biol Chem; 2023 Dec; 299(12):105436. PubMed ID: 37944616
[TBL] [Abstract][Full Text] [Related]
15. Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives.
Liu B; Conroy JM; Morrison CD; Odunsi AO; Qin M; Wei L; Trump DL; Johnson CS; Liu S; Wang J
Oncotarget; 2015 Mar; 6(8):5477-89. PubMed ID: 25849937
[TBL] [Abstract][Full Text] [Related]
16. Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition.
Ku CS; Cooper DN; Iacopetta B; Roukos DH
Clin Genet; 2013 Jan; 83(1):2-6. PubMed ID: 23020236
[TBL] [Abstract][Full Text] [Related]
17. NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing.
Cao Y; Ha SY; So CC; Tong MT; Tang CS; Zhang H; Liang R; Yang J; Chung BH; Chan GC; Lau YL; Garcia-Barcelo MM; Ma ES; Sucharitchan P; Hirankarn N; Yang W
J Mol Diagn; 2022 Oct; 24(10):1089-1099. PubMed ID: 35868510
[TBL] [Abstract][Full Text] [Related]
18. Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.
Guan Y; Hu H; Peng Y; Gong Y; Yi Y; Shao L; Liu T; Li G; Wang R; Dai P; Bignon YJ; Xiao Z; Yang L; Mu F; Xiao L; Xie Z; Yan W; Xu N; Zhou D; Yi X
Fam Cancer; 2015 Mar; 14(1):9-18. PubMed ID: 25151137
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
Zanella I; Merola F; Biasiotto G; Archetti S; Spinelli E; Di Lorenzo D
Exp Mol Pathol; 2017 Apr; 102(2):314-320. PubMed ID: 28263838
[TBL] [Abstract][Full Text] [Related]
20. Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters.
Clark BE; Shooter C; Smith F; Brawand D; Thein SL
Int J Lab Hematol; 2017 May; 39 Suppl 1():111-120. PubMed ID: 28447426
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
