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2018 2
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A complete reference genome improves analysis of human genetic variation.
Aganezov S, Yan SM, Soto DC, Kirsche M, Zarate S, Avdeyev P, Taylor DJ, Shafin K, Shumate A, Xiao C, Wagner J, McDaniel J, Olson ND, Sauria MEG, Vollger MR, Rhie A, Meredith M, Martin S, Lee J, Koren S, Rosenfeld JA, Paten B, Layer R, Chin CS, Sedlazeck FJ, Hansen NF, Miller DE, Phillippy AM, Miga KH, McCoy RC, Dennis MY, Zook JM, Schatz MC. Aganezov S, et al. Science. 2022 Apr;376(6588):eabl3533. doi: 10.1126/science.abl3533. Epub 2022 Apr 1. Science. 2022. PMID: 35357935 Free PMC article.
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. Bioinformatics. 2019 Nov 1;35(22):4782-4787. doi: 10.1093/bioinformatics/btz492. Bioinformatics. 2019. PMID: 31218349 Free PMC article.
A map of constrained coding regions in the human genome.
Havrilla JM, Pedersen BS, Layer RM, Quinlan AR. Havrilla JM, et al. Nat Genet. 2019 Jan;51(1):88-95. doi: 10.1038/s41588-018-0294-6. Epub 2018 Dec 10. Nat Genet. 2019. PMID: 30531870 Free PMC article.