Article
Segmental duplications and their variation in a complete human genome.
Science (New York, N.Y.) - 1 Apr 2022
Vollger Mitchell R, Guitart Xavi, Dishuck Philip C, Mercuri Ludovica, Harvey William T, Gershman Ariel, Diekhans Mark, Sulovari Arvis, Munson Katherine M, Lewis Alexandra P, Hoekzema Kendra, Porubsky David, Li Ruiyang, Nurk Sergey, Koren Sergey, Miga Karen H, Phillippy Adam M, Timp Winston, Ventura Mario, Eichler Evan E
Abstract excerpt
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) are among the last regions of the human reference genome (GRCh38) to be fully sequenced. Using a complete telomere-to-telomere human genome (T2T-CHM13), we present a comprehensive view of human SD organization. SDs account for nearly one-third of the additional sequence, increasing the genome-wide estimate from 5.4 to...
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