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Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE. Ebert P, et al. Among authors: hall im. Science. 2021 Apr 2;372(6537):eabf7117. doi: 10.1126/science.abf7117. Epub 2021 Feb 25. Science. 2021. PMID: 33632895 Free PMC article.
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. Chiang C, et al. Among authors: hall im. Nat Genet. 2012 Mar 4;44(4):390-7, S1. doi: 10.1038/ng.2202. Nat Genet. 2012. PMID: 22388000 Free PMC article.
Mosaic copy number variation in human neurons.
McConnell MJ, Lindberg MR, Brennand KJ, Piper JC, Voet T, Cowing-Zitron C, Shumilina S, Lasken RS, Vermeesch JR, Hall IM, Gage FH. McConnell MJ, et al. Among authors: hall im. Science. 2013 Nov 1;342(6158):632-7. doi: 10.1126/science.1243472. Science. 2013. PMID: 24179226 Free PMC article.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
SVScore: an impact prediction tool for structural variation.
Ganel L, Abel HJ; FinMetSeq Consortium; Hall IM. Ganel L, et al. Among authors: hall im. Bioinformatics. 2017 Apr 1;33(7):1083-1085. doi: 10.1093/bioinformatics/btw789. Bioinformatics. 2017. PMID: 28031184 Free PMC article.
The impact of structural variation on human gene expression.
Chiang C, Scott AJ, Davis JR, Tsang EK, Li X, Kim Y, Hadzic T, Damani FN, Ganel L; GTEx Consortium; Montgomery SB, Battle A, Conrad DF, Hall IM. Chiang C, et al. Among authors: hall im. Nat Genet. 2017 May;49(5):692-699. doi: 10.1038/ng.3834. Epub 2017 Apr 3. Nat Genet. 2017. PMID: 28369037 Free PMC article.
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.
Regier AA, Farjoun Y, Larson DE, Krasheninina O, Kang HM, Howrigan DP, Chen BJ, Kher M, Banks E, Ames DC, English AC, Li H, Xing J, Zhang Y, Matise T, Abecasis GR, Salerno W, Zody MC, Neale BM, Hall IM. Regier AA, et al. Among authors: hall im. Nat Commun. 2018 Oct 2;9(1):4038. doi: 10.1038/s41467-018-06159-4. Nat Commun. 2018. PMID: 30279509 Free PMC article.
Genomic Analysis in the Age of Human Genome Sequencing.
Lappalainen T, Scott AJ, Brandt M, Hall IM. Lappalainen T, et al. Among authors: hall im. Cell. 2019 Mar 21;177(1):70-84. doi: 10.1016/j.cell.2019.02.032. Cell. 2019. PMID: 30901550 Free PMC article. Review.
svtools: population-scale analysis of structural variation.
Larson DE, Abel HJ, Chiang C, Badve A, Das I, Eldred JM, Layer RM, Hall IM. Larson DE, et al. Among authors: hall im. Bioinformatics. 2019 Nov 1;35(22):4782-4787. doi: 10.1093/bioinformatics/btz492. Bioinformatics. 2019. PMID: 31218349 Free PMC article.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project; Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. Locke AE, et al. Among authors: hall im. Nature. 2019 Aug;572(7769):323-328. doi: 10.1038/s41586-019-1457-z. Epub 2019 Jul 31. Nature. 2019. PMID: 31367044 Free PMC article.
120 results