293 related articles for article (PubMed ID: 35032432)
1. 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]
2. 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]
3. 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]
4. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Zhao X; Collins RL; Lee WP; Weber AM; Jun Y; Zhu Q; Weisburd B; Huang Y; Audano PA; Wang H; Walker M; Lowther C; Fu J; ; Gerstein MB; Devine SE; Marschall T; Korbel JO; Eichler EE; Chaisson MJP; Lee C; Mills RE; Brand H; Talkowski ME
Am J Hum Genet; 2021 May; 108(5):919-928. PubMed ID: 33789087
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.
Fang L; Kao C; Gonzalez MV; Mafra FA; Pellegrino da Silva R; Li M; Wenzel SS; Wimmer K; Hakonarson H; Wang K
Nat Commun; 2019 Dec; 10(1):5585. PubMed ID: 31811119
[TBL] [Abstract][Full Text] [Related]
8. PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Xu Z; Li Q; Marchionni L; Wang K
Nat Commun; 2023 Nov; 14(1):7805. PubMed ID: 38016949
[TBL] [Abstract][Full Text] [Related]
9. Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Uguen K; Jubin C; Duffourd Y; Bardel C; Malan V; Dupont JM; El Khattabi L; Chatron N; Vitobello A; Rollat-Farnier PA; Baulard C; Lelorch M; Leduc A; Tisserant E; Tran Mau-Them F; Danjean V; Delepine M; Till M; Meyer V; Lyonnet S; Mosca-Boidron AL; Thevenon J; Faivre L; Thauvin-Robinet C; Schluth-Bolard C; Boland A; Olaso R; Callier P; Romana S; Deleuze JF; Sanlaville D
Mol Genet Genomic Med; 2020 Mar; 8(3):e1114. PubMed ID: 31985172
[TBL] [Abstract][Full Text] [Related]
10. Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.
Fujimoto A; Wong JH; Yoshii Y; Akiyama S; Tanaka A; Yagi H; Shigemizu D; Nakagawa H; Mizokami M; Shimada M
Genome Med; 2021 Apr; 13(1):65. PubMed ID: 33910608
[TBL] [Abstract][Full Text] [Related]
11. Visualization tools for human structural variations identified by whole-genome sequencing.
Yokoyama TT; Kasahara M
J Hum Genet; 2020 Jan; 65(1):49-60. PubMed ID: 31666648
[TBL] [Abstract][Full Text] [Related]
12. SVLR: Genome Structural Variant Detection Using Long-Read Sequencing Data.
Gu W; Zhou A; Wang L; Sun S; Cui X; Zhu D
J Comput Biol; 2021 Aug; 28(8):774-788. PubMed ID: 33973820
[TBL] [Abstract][Full Text] [Related]
13. A recurrence-based approach for validating structural variation using long-read sequencing technology.
Zhao X; Weber AM; Mills RE
Gigascience; 2017 Aug; 6(8):1-9. PubMed ID: 28873962
[TBL] [Abstract][Full Text] [Related]
14. SVFX: a machine learning framework to quantify the pathogenicity of structural variants.
Kumar S; Harmanci A; Vytheeswaran J; Gerstein MB
Genome Biol; 2020 Nov; 21(1):274. PubMed ID: 33168059
[TBL] [Abstract][Full Text] [Related]
15. Comparison of structural variants detected by PacBio-CLR and ONT sequencing in pear.
Liu Y; Zhang M; Wang R; Li B; Jiang Y; Sun M; Chang Y; Wu J
BMC Genomics; 2022 Dec; 23(1):830. PubMed ID: 36517766
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Assessing structural variation in a personal genome-towards a human reference diploid genome.
English AC; Salerno WJ; Hampton OA; Gonzaga-Jauregui C; Ambreth S; Ritter DI; Beck CR; Davis CF; Dahdouli M; Ma S; Carroll A; Veeraraghavan N; Bruestle J; Drees B; Hastie A; Lam ET; White S; Mishra P; Wang M; Han Y; Zhang F; Stankiewicz P; Wheeler DA; Reid JG; Muzny DM; Rogers J; Sabo A; Worley KC; Lupski JR; Boerwinkle E; Gibbs RA
BMC Genomics; 2015 Apr; 16(1):286. PubMed ID: 25886820
[TBL] [Abstract][Full Text] [Related]
18. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
Middelkamp S; Vlaar JM; Giltay J; Korzelius J; Besselink N; Boymans S; Janssen R; de la Fonteijne L; van Binsbergen E; van Roosmalen MJ; Hochstenbach R; Giachino D; Talkowski ME; Kloosterman WP; Cuppen E
Genome Med; 2019 Dec; 11(1):79. PubMed ID: 31801603
[TBL] [Abstract][Full Text] [Related]
19. SVPV: a structural variant prediction viewer for paired-end sequencing datasets.
Munro JE; Dunwoodie SL; Giannoulatou E
Bioinformatics; 2017 Jul; 33(13):2032-2033. PubMed ID: 28334120
[TBL] [Abstract][Full Text] [Related]
20. Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain.
Vialle RA; de Paiva Lopes K; Bennett DA; Crary JF; Raj T
Nat Neurosci; 2022 Apr; 25(4):504-514. PubMed ID: 35288716
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
