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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; Human Genome Structural Variation Consortium; Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME. Zhao X, et al. Among authors: devine se. Am J Hum Genet. 2021 May 6;108(5):919-928. doi: 10.1016/j.ajhg.2021.03.014. Epub 2021 Mar 30. Am J Hum Genet. 2021. PMID: 33789087 Free PMC article.
Recently mobilized transposons in the human and chimpanzee genomes.
Mills RE, Bennett EA, Iskow RC, Luttig CT, Tsui C, Pittard WS, Devine SE. Mills RE, et al. Among authors: devine se. Am J Hum Genet. 2006 Apr;78(4):671-9. doi: 10.1086/501028. Epub 2006 Feb 2. Am J Hum Genet. 2006. PMID: 16532396 Free PMC article.
Which transposable elements are active in the human genome?
Mills RE, Bennett EA, Iskow RC, Devine SE. Mills RE, et al. Among authors: devine se. Trends Genet. 2007 Apr;23(4):183-91. doi: 10.1016/j.tig.2007.02.006. Epub 2007 Feb 27. Trends Genet. 2007. PMID: 17331616 Review.
Active Alu retrotransposons in the human genome.
Bennett EA, Keller H, Mills RE, Schmidt S, Moran JV, Weichenrieder O, Devine SE. Bennett EA, et al. Among authors: devine se. Genome Res. 2008 Dec;18(12):1875-83. doi: 10.1101/gr.081737.108. Epub 2008 Oct 3. Genome Res. 2008. PMID: 18836035 Free PMC article.
Natural mutagenesis of human genomes by endogenous retrotransposons.
Iskow RC, McCabe MT, Mills RE, Torene S, Pittard WS, Neuwald AF, Van Meir EG, Vertino PM, Devine SE. Iskow RC, et al. Among authors: devine se. Cell. 2010 Jun 25;141(7):1253-61. doi: 10.1016/j.cell.2010.05.020. Cell. 2010. PMID: 20603005 Free PMC article.
Small insertions and deletions (INDELs) in human genomes.
Mullaney JM, Mills RE, Pittard WS, Devine SE. Mullaney JM, et al. Among authors: devine se. Hum Mol Genet. 2010 Oct 15;19(R2):R131-6. doi: 10.1093/hmg/ddq400. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858594 Free PMC article. Review.
An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 Free PMC article.
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium; Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Khurana E, et al. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. Science. 2013. PMID: 24092746 Free PMC article.
83 results