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000303081 1001_ $$00000-0003-2396-0656$$aLogsdon, Glennis A$$b0
000303081 245__ $$aComplex genetic variation in nearly complete human genomes.
000303081 260__ $$aLondon [u.a.]$$bNature Publ. Group$$c2025
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000303081 500__ $$aDivision of Computational Genomics and Systems Genetics, German Cancer Research Center, Heidelberg, Germany. / 2025 Aug;644(8076):430-441
000303081 520__ $$aDiverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here we sequence 65 diverse human genomes and build 130 haplotype-resolved assemblies (median continuity of 130 Mb), closing 92% of all previous assembly gaps1,2 and reaching telomere-to-telomere status for 39% of the chromosomes. We highlight complete sequence continuity of complex loci, including the major histocompatibility complex (MHC), SMN1/SMN2, NBPF8 and AMY1/AMY2, and fully resolve 1,852 complex structural variants. In addition, we completely assemble and validate 1,246 human centromeres. We find up to 30-fold variation in α-satellite higher-order repeat array length and characterize the pattern of mobile element insertions into α-satellite higher-order repeat arrays. Although most centromeres predict a single site of kinetochore attachment, epigenetic analysis suggests the presence of two hypomethylated regions for 7% of centromeres. Combining our data with the draft pangenome reference1 significantly enhances genotyping accuracy from short-read data, enabling whole-genome inference3 to a median quality value of 45. Using this approach, 26,115 structural variants per individual are detected, substantially increasing the number of structural variants now amenable to downstream disease association studies.
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000303081 7001_ $$00000-0001-7441-532X$$aEbert, Peter$$b1
000303081 7001_ $$00000-0002-5187-0415$$aAudano, Peter A$$b2
000303081 7001_ $$00000-0002-6279-6855$$aLoftus, Mark$$b3
000303081 7001_ $$00000-0001-8414-8966$$aPorubsky, David$$b4
000303081 7001_ $$aEbler, Jana$$b5
000303081 7001_ $$00000-0001-8795-5800$$aYilmaz, Feyza$$b6
000303081 7001_ $$00000-0002-0588-3987$$aHallast, Pille$$b7
000303081 7001_ $$00000-0001-7469-6651$$aProdanov, Timofey$$b8
000303081 7001_ $$00000-0003-0033-3721$$aYoo, DongAhn$$b9
000303081 7001_ $$aPaisie, Carolyn A$$b10
000303081 7001_ $$aHarvey, William T$$b11
000303081 7001_ $$aZhao, Xuefang$$b12
000303081 7001_ $$aMartino, Gianni V$$b13
000303081 7001_ $$aHenglin, Mir$$b14
000303081 7001_ $$00000-0001-8413-6498$$aMunson, Katherine M$$b15
000303081 7001_ $$aRabbani, Keon$$b16
000303081 7001_ $$00000-0003-4394-2455$$aChin, Chen-Shan$$b17
000303081 7001_ $$aGu, Bida$$b18
000303081 7001_ $$aAshraf, Hufsah$$b19
000303081 7001_ $$aScholz, Stephan$$b20
000303081 7001_ $$aAustine-Orimoloye, Olanrewaju$$b21
000303081 7001_ $$aBalachandran, Parithi$$b22
000303081 7001_ $$0P:(DE-He78)ed3a2ed903bfbc6b0c33ef7009b141ce$$aBonder, Marc Jan$$b23
000303081 7001_ $$00000-0002-9209-5793$$aCheng, Haoyu$$b24
000303081 7001_ $$00000-0001-5750-1808$$aChong, Zechen$$b25
000303081 7001_ $$00000-0002-7286-5690$$aCrabtree, Jonathan$$b26
000303081 7001_ $$00000-0002-9746-3719$$aGerstein, Mark$$b27
000303081 7001_ $$aGuethlein, Lisbeth A$$b28
000303081 7001_ $$aHasenfeld, Patrick$$b29
000303081 7001_ $$00000-0002-2280-9404$$aHickey, Glenn$$b30
000303081 7001_ $$aHoekzema, Kendra$$b31
000303081 7001_ $$00000-0002-8350-1235$$aHunt, Sarah E$$b32
000303081 7001_ $$aJensen, Matthew$$b33
000303081 7001_ $$00000-0001-8768-0050$$aJiang, Yunzhe$$b34
000303081 7001_ $$00000-0002-1472-8962$$aKoren, Sergey$$b35
000303081 7001_ $$00000-0002-5024-2134$$aKwon, Youngjun$$b36
000303081 7001_ $$aLi, Chong$$b37
000303081 7001_ $$aLi, Heng$$b38
000303081 7001_ $$00000-0002-6796-335X$$aLi, Jiaqi$$b39
000303081 7001_ $$00000-0001-8370-7703$$aNorman, Paul J$$b40
000303081 7001_ $$aOshima, Keisuke K$$b41
000303081 7001_ $$00000-0001-8863-3539$$aPaten, Benedict$$b42
000303081 7001_ $$00000-0003-2983-8934$$aPhillippy, Adam M$$b43
000303081 7001_ $$00000-0003-0114-528X$$aPollock, Nicholas R$$b44
000303081 7001_ $$aRausch, Tobias$$b45
000303081 7001_ $$aRautiainen, Mikko$$b46
000303081 7001_ $$00000-0003-2537-4343$$aSong, Yuwei$$b47
000303081 7001_ $$aSöylev, Arda$$b48
000303081 7001_ $$aSulovari, Arvis$$b49
000303081 7001_ $$00000-0002-0575-7673$$aSurapaneni, Likhitha$$b50
000303081 7001_ $$aTsapalou, Vasiliki$$b51
000303081 7001_ $$00000-0003-4755-1072$$aZhou, Weichen$$b52
000303081 7001_ $$aZhou, Ying$$b53
000303081 7001_ $$aZhu, Qihui$$b54
000303081 7001_ $$00000-0001-6594-7199$$aZody, Michael C$$b55
000303081 7001_ $$00000-0003-3425-6998$$aMills, Ryan E$$b56
000303081 7001_ $$aDevine, Scott E$$b57
000303081 7001_ $$aShi, Xinghua$$b58
000303081 7001_ $$aTalkowski, Michael E$$b59
000303081 7001_ $$00000-0001-5395-1457$$aChaisson, Mark J P$$b60
000303081 7001_ $$aDilthey, Alexander T$$b61
000303081 7001_ $$00000-0002-3190-1667$$aKonkel, Miriam K$$b62
000303081 7001_ $$aKorbel, Jan O$$b63
000303081 7001_ $$00000-0001-7317-6662$$aLee, Charles$$b64
000303081 7001_ $$00000-0001-7821-8489$$aBeck, Christine R$$b65
000303081 7001_ $$00000-0002-8246-4014$$aEichler, Evan E$$b66
000303081 7001_ $$00000-0002-9376-1030$$aMarschall, Tobias$$b67
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