Article
Complex genetic variation in nearly complete human genomes.
Nature - 1 Aug 2025
Logsdon Glennis A, Ebert Peter, Audano Peter A, Loftus Mark, Porubsky David, Ebler Jana, Yilmaz Feyza, Hallast Pille, Prodanov Timofey, Yoo DongAhn, Paisie Carolyn A, Harvey William T, Zhao Xuefang, Martino Gianni V, Henglin Mir, Munson Katherine M, Rabbani Keon, Chin Chen-Shan, Gu Bida, Ashraf Hufsah, Scholz Stephan, Austine-Orimoloye Olanrewaju, Balachandran Parithi, Bonder Marc Jan, Cheng Haoyu, Chong Zechen, Crabtree Jonathan, Gerstein Mark, Guethlein Lisbeth A, Hasenfeld Patrick, Hickey Glenn, Hoekzema Kendra, Hunt Sarah E, Jensen Matthew, Jiang Yunzhe, Koren Sergey, Kwon Youngjun, Li Chong, Li Heng, Li Jiaqi, Norman Paul J, Oshima Keisuke K, Paten Benedict, Phillippy Adam M, Pollock Nicholas R, Rausch Tobias, Rautiainen Mikko, Song Yuwei, Söylev Arda, Sulovari Arvis, Surapaneni Likhitha, Tsapalou Vasiliki, Zhou Weichen, Zhou Ying, Zhu Qihui, Zody Michael C, Mills Ryan E, Devine Scott E, Shi Xinghua, Talkowski Michael E, Chaisson Mark J P, Dilthey Alexander T, Konkel Miriam K, Korbel Jan O, Lee Charles, Beck Christine R, Eichler Evan E, Marschall Tobias
Abstract excerpt
Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here we sequence 65 diverse human genomes and build 130 haplotype-resolved assemblies (median continuity of 130 Mb), closing 92% of all previous assembly gaps1,2 and reaching telomere-to-telomere status for 39% of the chromosomes. We highlight complete sequence...
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