424 related articles for article (PubMed ID: 31985172)
21. 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]
22. Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
Roberts HE; Lopopolo M; Pagnamenta AT; Sharma E; Parkes D; Lonie L; Freeman C; Knight SJL; Lunter G; Dreau H; Lockstone H; Taylor JC; Schuh A; Bowden R; Buck D
Sci Rep; 2021 Mar; 11(1):6408. PubMed ID: 33742045
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. GASOLINE: detecting germline and somatic structural variants from long-reads data.
Magi A; Mattei G; Mingrino A; Caprioli C; Ronchini C; Frigè G; Semeraro R; Baragli M; Bolognini D; Colombo E; Mazzarella L; Pelicci PG
Sci Rep; 2023 Nov; 13(1):20817. PubMed ID: 38012350
[TBL] [Abstract][Full Text] [Related]
25. ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
Kaplun L; Krautz-Peterson G; Neerman N; Stanley C; Hussey S; Folwick M; McGarry A; Weiss S; Kaplun A
Front Genet; 2023; 14():1145285. PubMed ID: 37152986
[TBL] [Abstract][Full Text] [Related]
26. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE; Rodenburg K; Corominas J; Ben-Yosef T; Reurink J; Kremer H; Whelan L; Plomp AS; Berger W; Farrar GJ; Ferenc Kovács Á; Fajardy I; Hitti-Malin RJ; Weisschuh N; Weener ME; Sharon D; Pennings RJE; Haer-Wigman L; Hoyng CB; Nelen MR; Vissers LELM; van den Born LI; Gilissen C; Cremers FPM; Hoischen A; Neveling K; Roosing S
Genet Med; 2023 Mar; 25(3):100345. PubMed ID: 36524988
[TBL] [Abstract][Full Text] [Related]
27. Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes.
Fatima N; Petri A; Gyllensten U; Feuk L; Ameur A
Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33266238
[TBL] [Abstract][Full Text] [Related]
28. Evaluation of Germline Structural Variant Calling Methods for Nanopore Sequencing Data.
Bolognini D; Magi A
Front Genet; 2021; 12():761791. PubMed ID: 34868242
[TBL] [Abstract][Full Text] [Related]
29. Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing.
Kosugi S; Momozawa Y; Liu X; Terao C; Kubo M; Kamatani Y
Genome Biol; 2019 Jun; 20(1):117. PubMed ID: 31159850
[TBL] [Abstract][Full Text] [Related]
30. Characterization of structural variants with single molecule and hybrid sequencing approaches.
Ritz A; Bashir A; Sindi S; Hsu D; Hajirasouliha I; Raphael BJ
Bioinformatics; 2014 Dec; 30(24):3458-66. PubMed ID: 25355789
[TBL] [Abstract][Full Text] [Related]
31. Unravelling the tumour genome: The evolutionary and clinical impacts of structural variants in tumourigenesis.
Hamdan A; Ewing A
J Pathol; 2022 Jul; 257(4):479-493. PubMed ID: 35355264
[TBL] [Abstract][Full Text] [Related]
32. A Comparison between Hi-C and 10X Genomics Linked Read Sequencing for Whole Genome Phasing in Hanwoo Cattle.
Srikanth K; Park JE; Lim D; Cha J; Cho SR; Cho IC; Park W
Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32245072
[TBL] [Abstract][Full Text] [Related]
33. Detection of structural variants involving repetitive regions in the reference genome.
Lee H; Popodi E; Foster PL; Tang H
J Comput Biol; 2014 Mar; 21(3):219-33. PubMed ID: 24552580
[TBL] [Abstract][Full Text] [Related]
34. Toward Cytogenomics: Technical Assessment of Long-Read Nanopore Whole-Genome Sequencing for Detecting Large Chromosomal Alterations in Mantle Cell Lymphoma.
Hansen MH; Cédile O; Kjeldsen MLG; Thomassen M; Preiss B; von Neuhoff N; Abildgaard N; Nyvold CG
J Mol Diagn; 2023 Nov; 25(11):796-805. PubMed ID: 37683892
[TBL] [Abstract][Full Text] [Related]
35. Lightning-fast genome variant detection with GROM.
Smith SD; Kawash JK; Grigoriev A
Gigascience; 2017 Oct; 6(10):1-7. PubMed ID: 29048532
[TBL] [Abstract][Full Text] [Related]
36. Comparison and benchmark of structural variants detected from long read and long-read assembly.
Lin J; Jia P; Wang S; Kosters W; Ye K
Brief Bioinform; 2023 Jul; 24(4):. PubMed ID: 37200087
[TBL] [Abstract][Full Text] [Related]
37. Long-read trio sequencing of individuals with unsolved intellectual disability.
Pauper M; Kucuk E; Wenger AM; Chakraborty S; Baybayan P; Kwint M; van der Sanden B; Nelen MR; Derks R; Brunner HG; Hoischen A; Vissers LELM; Gilissen C
Eur J Hum Genet; 2021 Apr; 29(4):637-648. PubMed ID: 33257779
[TBL] [Abstract][Full Text] [Related]
38. Genome-wide detection of structural variation in some sheep breeds using whole-genome long-read sequencing data.
Qiao G; Xu P; Guo T; He X; Yue Y; Yang B
J Anim Breed Genet; 2024 Jul; 141(4):403-414. PubMed ID: 38247268
[TBL] [Abstract][Full Text] [Related]
39. Detection and visualization of complex structural variants from long reads.
Stephens Z; Wang C; Iyer RK; Kocher JP
BMC Bioinformatics; 2018 Dec; 19(Suppl 20):508. PubMed ID: 30577744
[TBL] [Abstract][Full Text] [Related]
40.
Zhang L; Zhou X; Weng Z; Sidow A
NAR Genom Bioinform; 2020 Mar; 2(1):lqz018. PubMed ID: 33575568
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]