133 related articles for article (PubMed ID: 38229122)
21. SV-plaudit: A cloud-based framework for manually curating thousands of structural variants.
Belyeu JR; Nicholas TJ; Pedersen BS; Sasani TA; Havrilla JM; Kravitz SN; Conway ME; Lohman BK; Quinlan AR; Layer RM
Gigascience; 2018 Jul; 7(7):. PubMed ID: 29860504
[TBL] [Abstract][Full Text] [Related]
22. iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data.
Mimori T; Nariai N; Kojima K; Takahashi M; Ono A; Sato Y; Yamaguchi-Kabata Y; Nagasaki M
BMC Syst Biol; 2013; 7 Suppl 6(Suppl 6):S8. PubMed ID: 24564972
[TBL] [Abstract][Full Text] [Related]
23. A graph clustering algorithm for detection and genotyping of structural variants from long reads.
Gaitán N; Duitama J
Gigascience; 2024 Jan; 13():. PubMed ID: 38206589
[TBL] [Abstract][Full Text] [Related]
24. Benchmarking datasets for assembly-based variant calling using high-fidelity long reads.
Lee H; Kim J; Lee J
BMC Genomics; 2023 Mar; 24(1):148. PubMed ID: 36973656
[TBL] [Abstract][Full Text] [Related]
25. SvABA: genome-wide detection of structural variants and indels by local assembly.
Wala JA; Bandopadhayay P; Greenwald NF; O'Rourke R; Sharpe T; Stewart C; Schumacher S; Li Y; Weischenfeldt J; Yao X; Nusbaum C; Campbell P; Getz G; Meyerson M; Zhang CZ; Imielinski M; Beroukhim R
Genome Res; 2018 Apr; 28(4):581-591. PubMed ID: 29535149
[TBL] [Abstract][Full Text] [Related]
26. Evaluating nanopore sequencing data processing pipelines for structural variation identification.
Zhou A; Lin T; Xing J
Genome Biol; 2019 Nov; 20(1):237. PubMed ID: 31727126
[TBL] [Abstract][Full Text] [Related]
27. nanotatoR: a tool for enhanced annotation of genomic structural variants.
Bhattacharya S; Barseghyan H; Délot EC; Vilain E
BMC Genomics; 2021 Jan; 22(1):10. PubMed ID: 33407088
[TBL] [Abstract][Full Text] [Related]
28. Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.
Barseghyan H; Pang AWC; Clifford B; Serrano MA; Chaubey A; Hastie AR
Genes (Basel); 2023 Sep; 14(10):. PubMed ID: 37895217
[TBL] [Abstract][Full Text] [Related]
29. Detecting inherited and novel structural variants in low-coverage parent-child sequencing data.
Spence M; Banuelos M; Marcia RF; Sindi S
Methods; 2020 Feb; 173():61-68. PubMed ID: 31271880
[TBL] [Abstract][Full Text] [Related]
30. Meltos: multi-sample tumor phylogeny reconstruction for structural variants.
Ricketts C; Seidman D; Popic V; Hormozdiari F; Batzoglou S; Hajirasouliha I
Bioinformatics; 2020 Feb; 36(4):1082-1090. PubMed ID: 31584621
[TBL] [Abstract][Full Text] [Related]
31. NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data.
Linderman MD; Paudyal C; Shakeel M; Kelley W; Bashir A; Gelb BD
Gigascience; 2021 Jul; 10(7):. PubMed ID: 34195837
[TBL] [Abstract][Full Text] [Related]
32. Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.
Krishnan V; Utiramerur S; Ng Z; Datta S; Snyder MP; Ashley EA
BMC Bioinformatics; 2021 Feb; 22(1):85. PubMed ID: 33627090
[TBL] [Abstract][Full Text] [Related]
33. PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform.
Wang Y; Ling Y; Gong J; Zhao X; Zhou H; Xie B; Lou H; Zhuang X; Jin L; ; Fan S; Zhang G; Xu S
Nucleic Acids Res; 2023 Jan; 51(D1):D1109-D1116. PubMed ID: 36243989
[TBL] [Abstract][Full Text] [Related]
34. Long-read sequencing settings for efficient structural variation detection based on comprehensive evaluation.
Jiang T; Liu S; Cao S; Liu Y; Cui Z; Wang Y; Guo H
BMC Bioinformatics; 2021 Nov; 22(1):552. PubMed ID: 34772337
[TBL] [Abstract][Full Text] [Related]
35. Benchmarking of structural variant detection in the tetraploid potato genome using linked-read sequencing.
Weisweiler M; Stich B
Genomics; 2023 Mar; 115(2):110568. PubMed ID: 36702293
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Pysim-sv: a package for simulating structural variation data with GC-biases.
Xia Y; Liu Y; Deng M; Xi R
BMC Bioinformatics; 2017 Mar; 18(Suppl 3):53. PubMed ID: 28361688
[TBL] [Abstract][Full Text] [Related]
38. Comparing the performance of selected variant callers using synthetic data and genome segmentation.
Bian X; Zhu B; Wang M; Hu Y; Chen Q; Nguyen C; Hicks B; Meerzaman D
BMC Bioinformatics; 2018 Nov; 19(1):429. PubMed ID: 30453880
[TBL] [Abstract][Full Text] [Related]
39. Clinical Targeted Next-Generation sequencing Panels for Detection of Somatic Variants in Gliomas.
Shin H; Sa JK; Bae JS; Koo H; Jin S; Cho HJ; Choi SW; Kyoung JM; Kim JY; Seo YJ; Joung JG; Kim NKD; Son DS; Chung J; Lee T; Kong DS; Choi JW; Seol HJ; Lee JI; Suh YL; Park WY; Nam DH
Cancer Res Treat; 2020 Jan; 52(1):41-50. PubMed ID: 31096737
[TBL] [Abstract][Full Text] [Related]
40. StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.
Sharo AG; Hu Z; Sunyaev SR; Brenner SE
Am J Hum Genet; 2022 Feb; 109(2):195-209. PubMed ID: 35032432
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]