% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Logsdon:303081,
      author       = {G. A. Logsdon and P. Ebert and P. A. Audano and M. Loftus
                      and D. Porubsky and J. Ebler and F. Yilmaz and P. Hallast
                      and T. Prodanov and D. Yoo and C. A. Paisie and W. T. Harvey
                      and X. Zhao and G. V. Martino and M. Henglin and K. M.
                      Munson and K. Rabbani and C.-S. Chin and B. Gu and H. Ashraf
                      and S. Scholz and O. Austine-Orimoloye and P. Balachandran
                      and M. J. Bonder$^*$ and H. Cheng and Z. Chong and J.
                      Crabtree and M. Gerstein and L. A. Guethlein and P.
                      Hasenfeld and G. Hickey and K. Hoekzema and S. E. Hunt and
                      M. Jensen and Y. Jiang and S. Koren and Y. Kwon and C. Li
                      and H. Li and J. Li and P. J. Norman and K. K. Oshima and B.
                      Paten and A. M. Phillippy and N. R. Pollock and T. Rausch
                      and M. Rautiainen and Y. Song and A. Söylev and A. Sulovari
                      and L. Surapaneni and V. Tsapalou and W. Zhou and Y. Zhou
                      and Q. Zhu and M. C. Zody and R. E. Mills and S. E. Devine
                      and X. Shi and M. E. Talkowski and M. J. P. Chaisson and A.
                      T. Dilthey and M. K. Konkel and J. O. Korbel and C. Lee and
                      C. R. Beck and E. E. Eichler and T. Marschall},
      title        = {{C}omplex genetic variation in nearly complete human
                      genomes.},
      journal      = {Nature},
      volume       = {644},
      number       = {8076},
      issn         = {0028-0836},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2025-01506},
      pages        = {430-441},
      year         = {2025},
      note         = {Division of Computational Genomics and Systems Genetics,
                      German Cancer Research Center, Heidelberg, Germany. / 2025
                      Aug;644(8076):430-441},
      abstract     = {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.},
      cin          = {B260},
      ddc          = {500},
      cid          = {I:(DE-He78)B260-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40702183},
      doi          = {10.1038/s41586-025-09140-6},
      url          = {https://inrepo02.dkfz.de/record/303081},
}