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| 001 | 303081 | ||
| 005 | 20250827124026.0 | ||
| 024 | 7 | _ | |a 10.1038/s41586-025-09140-6 |2 doi |
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| 100 | 1 | _ | |a Logsdon, Glennis A |0 0000-0003-2396-0656 |b 0 |
| 245 | _ | _ | |a Complex genetic variation in nearly complete human genomes. |
| 260 | _ | _ | |a London [u.a.] |c 2025 |b Nature Publ. Group |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1756291170_16150 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a Division of Computational Genomics and Systems Genetics, German Cancer Research Center, Heidelberg, Germany. / 2025 Aug;644(8076):430-441 |
| 520 | _ | _ | |a 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 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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| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de |
| 700 | 1 | _ | |a Ebert, Peter |0 0000-0001-7441-532X |b 1 |
| 700 | 1 | _ | |a Audano, Peter A |0 0000-0002-5187-0415 |b 2 |
| 700 | 1 | _ | |a Loftus, Mark |0 0000-0002-6279-6855 |b 3 |
| 700 | 1 | _ | |a Porubsky, David |0 0000-0001-8414-8966 |b 4 |
| 700 | 1 | _ | |a Ebler, Jana |b 5 |
| 700 | 1 | _ | |a Yilmaz, Feyza |0 0000-0001-8795-5800 |b 6 |
| 700 | 1 | _ | |a Hallast, Pille |0 0000-0002-0588-3987 |b 7 |
| 700 | 1 | _ | |a Prodanov, Timofey |0 0000-0001-7469-6651 |b 8 |
| 700 | 1 | _ | |a Yoo, DongAhn |0 0000-0003-0033-3721 |b 9 |
| 700 | 1 | _ | |a Paisie, Carolyn A |b 10 |
| 700 | 1 | _ | |a Harvey, William T |b 11 |
| 700 | 1 | _ | |a Zhao, Xuefang |b 12 |
| 700 | 1 | _ | |a Martino, Gianni V |b 13 |
| 700 | 1 | _ | |a Henglin, Mir |b 14 |
| 700 | 1 | _ | |a Munson, Katherine M |0 0000-0001-8413-6498 |b 15 |
| 700 | 1 | _ | |a Rabbani, Keon |b 16 |
| 700 | 1 | _ | |a Chin, Chen-Shan |0 0000-0003-4394-2455 |b 17 |
| 700 | 1 | _ | |a Gu, Bida |b 18 |
| 700 | 1 | _ | |a Ashraf, Hufsah |b 19 |
| 700 | 1 | _ | |a Scholz, Stephan |b 20 |
| 700 | 1 | _ | |a Austine-Orimoloye, Olanrewaju |b 21 |
| 700 | 1 | _ | |a Balachandran, Parithi |b 22 |
| 700 | 1 | _ | |a Bonder, Marc Jan |0 P:(DE-He78)ed3a2ed903bfbc6b0c33ef7009b141ce |b 23 |
| 700 | 1 | _ | |a Cheng, Haoyu |0 0000-0002-9209-5793 |b 24 |
| 700 | 1 | _ | |a Chong, Zechen |0 0000-0001-5750-1808 |b 25 |
| 700 | 1 | _ | |a Crabtree, Jonathan |0 0000-0002-7286-5690 |b 26 |
| 700 | 1 | _ | |a Gerstein, Mark |0 0000-0002-9746-3719 |b 27 |
| 700 | 1 | _ | |a Guethlein, Lisbeth A |b 28 |
| 700 | 1 | _ | |a Hasenfeld, Patrick |b 29 |
| 700 | 1 | _ | |a Hickey, Glenn |0 0000-0002-2280-9404 |b 30 |
| 700 | 1 | _ | |a Hoekzema, Kendra |b 31 |
| 700 | 1 | _ | |a Hunt, Sarah E |0 0000-0002-8350-1235 |b 32 |
| 700 | 1 | _ | |a Jensen, Matthew |b 33 |
| 700 | 1 | _ | |a Jiang, Yunzhe |0 0000-0001-8768-0050 |b 34 |
| 700 | 1 | _ | |a Koren, Sergey |0 0000-0002-1472-8962 |b 35 |
| 700 | 1 | _ | |a Kwon, Youngjun |0 0000-0002-5024-2134 |b 36 |
| 700 | 1 | _ | |a Li, Chong |b 37 |
| 700 | 1 | _ | |a Li, Heng |b 38 |
| 700 | 1 | _ | |a Li, Jiaqi |0 0000-0002-6796-335X |b 39 |
| 700 | 1 | _ | |a Norman, Paul J |0 0000-0001-8370-7703 |b 40 |
| 700 | 1 | _ | |a Oshima, Keisuke K |b 41 |
| 700 | 1 | _ | |a Paten, Benedict |0 0000-0001-8863-3539 |b 42 |
| 700 | 1 | _ | |a Phillippy, Adam M |0 0000-0003-2983-8934 |b 43 |
| 700 | 1 | _ | |a Pollock, Nicholas R |0 0000-0003-0114-528X |b 44 |
| 700 | 1 | _ | |a Rausch, Tobias |b 45 |
| 700 | 1 | _ | |a Rautiainen, Mikko |b 46 |
| 700 | 1 | _ | |a Song, Yuwei |0 0000-0003-2537-4343 |b 47 |
| 700 | 1 | _ | |a Söylev, Arda |b 48 |
| 700 | 1 | _ | |a Sulovari, Arvis |b 49 |
| 700 | 1 | _ | |a Surapaneni, Likhitha |0 0000-0002-0575-7673 |b 50 |
| 700 | 1 | _ | |a Tsapalou, Vasiliki |b 51 |
| 700 | 1 | _ | |a Zhou, Weichen |0 0000-0003-4755-1072 |b 52 |
| 700 | 1 | _ | |a Zhou, Ying |b 53 |
| 700 | 1 | _ | |a Zhu, Qihui |b 54 |
| 700 | 1 | _ | |a Zody, Michael C |0 0000-0001-6594-7199 |b 55 |
| 700 | 1 | _ | |a Mills, Ryan E |0 0000-0003-3425-6998 |b 56 |
| 700 | 1 | _ | |a Devine, Scott E |b 57 |
| 700 | 1 | _ | |a Shi, Xinghua |b 58 |
| 700 | 1 | _ | |a Talkowski, Michael E |b 59 |
| 700 | 1 | _ | |a Chaisson, Mark J P |0 0000-0001-5395-1457 |b 60 |
| 700 | 1 | _ | |a Dilthey, Alexander T |b 61 |
| 700 | 1 | _ | |a Konkel, Miriam K |0 0000-0002-3190-1667 |b 62 |
| 700 | 1 | _ | |a Korbel, Jan O |b 63 |
| 700 | 1 | _ | |a Lee, Charles |0 0000-0001-7317-6662 |b 64 |
| 700 | 1 | _ | |a Beck, Christine R |0 0000-0001-7821-8489 |b 65 |
| 700 | 1 | _ | |a Eichler, Evan E |0 0000-0002-8246-4014 |b 66 |
| 700 | 1 | _ | |a Marschall, Tobias |0 0000-0002-9376-1030 |b 67 |
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