518 related articles for article (PubMed ID: 33407088)
1. 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]
2. SVExpress: identifying gene features altered recurrently in expression with nearby structural variant breakpoints.
Zhang Y; Chen F; Creighton CJ
BMC Bioinformatics; 2021 Mar; 22(1):135. PubMed ID: 33743584
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
Barseghyan H; Tang W; Wang RT; Almalvez M; Segura E; Bramble MS; Lipson A; Douine ED; Lee H; Délot EC; Nelson SF; Vilain E
Genome Med; 2017 Oct; 9(1):90. PubMed ID: 29070057
[TBL] [Abstract][Full Text] [Related]
7. SNP-SVant: A Computational Workflow to Predict and Annotate Genomic Variants in Organisms Lacking Benchmarked Variants.
Gunasekaran D; Ardell DH; Nobile CJ
Curr Protoc; 2024 May; 4(5):e1046. PubMed ID: 38717471
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Tools for annotation and comparison of structural variation.
Sedlazeck FJ; Dhroso A; Bodian DL; Paschall J; Hermes F; Zook JM
F1000Res; 2017; 6():1795. PubMed ID: 29123647
[TBL] [Abstract][Full Text] [Related]
10. Analytic Validation of Optical Genome Mapping in Hematological Malignancies.
Pang AWC; Kosco K; Sahajpal NS; Sridhar A; Hauenstein J; Clifford B; Estabrook J; Chitsazan AD; Sahoo T; Iqbal A; Kolhe R; Raca G; Hastie AR; Chaubey A
Biomedicines; 2023 Dec; 11(12):. PubMed ID: 38137484
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies.
Shim Y; Koo YK; Shin S; Lee ST; Lee KA; Choi JR
Ann Lab Med; 2024 Jul; 44(4):324-334. PubMed ID: 38433573
[TBL] [Abstract][Full Text] [Related]
13. Oxford Nanopore and Bionano Genomics technologies evaluation for plant structural variation detection.
Canaguier A; Guilbaud R; Denis E; Magdelenat G; Belser C; Istace B; Cruaud C; Wincker P; Le Paslier MC; Faivre-Rampant P; Barbe V
BMC Genomics; 2022 Apr; 23(1):317. PubMed ID: 35448948
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. SV-HotSpot: detection and visualization of hotspots targeted by structural variants associated with gene expression.
Eteleeb AM; Quigley DA; Zhao SG; Pham D; Yang R; Dehm SM; Luo J; Feng FY; Dang HX; Maher CA
Sci Rep; 2020 Sep; 10(1):15890. PubMed ID: 32985524
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T; Neveling K; Pebrel-Richard C; Benoist M; van der Zande G; Kater-Baats E; Baatout I; van Beek R; Yammine T; Oorsprong M; Hsoumi F; Olde-Weghuis D; Majdali W; Vermeulen S; Pauper M; Lebbar A; Stevens-Kroef M; Sanlaville D; Dupont JM; Smeets D; Hoischen A; Schluth-Bolard C; El Khattabi L
Am J Hum Genet; 2021 Aug; 108(8):1409-1422. PubMed ID: 34237280
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
