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A draft human pangenome reference.
Nature. 2023 May;617(7960):312-324. doi: 10.1038/s41586-023-05896-x. Epub 2023 May 10.
Nature. 2023.
PMID: 37165242
Free PMC article.
Pangenome graph construction from genome alignments with Minigraph-Cactus.
Hickey G, Monlong J, Ebler J, Novak AM, Eizenga JM, Gao Y; Human Pangenome Reference Consortium; Marschall T, Li H, Paten B.
Hickey G, et al.
Nat Biotechnol. 2024 Apr;42(4):663-673. doi: 10.1038/s41587-023-01793-w. Epub 2023 May 10.
Nat Biotechnol. 2024.
PMID: 37165083
Free PMC article.
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Increased mutation and gene conversion within human segmental duplications.
Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M; Human Pangenome Reference Consortium; Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh P, Eichler EE.
Vollger MR, et al.
Nature. 2023 May;617(7960):325-334. doi: 10.1038/s41586-023-05895-y. Epub 2023 May 10.
Nature. 2023.
PMID: 37165237
Free PMC article.
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Recombination between heterologous human acrocentric chromosomes.
Guarracino A, Buonaiuto S, de Lima LG, Potapova T, Rhie A, Koren S, Rubinstein B, Fischer C; Human Pangenome Reference Consortium; Gerton JL, Phillippy AM, Colonna V, Garrison E.
Guarracino A, et al.
Nature. 2023 May;617(7960):335-343. doi: 10.1038/s41586-023-05976-y. Epub 2023 May 10.
Nature. 2023.
PMID: 37165241
Free PMC article.
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Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome.
Lee H, Greer SU, Pavlichin DS, Zhou B, Urban AE, Weissman T; Human Pangenome Reference Consortium; Ji HP.
Lee H, et al.
Cell Rep Methods. 2023 Aug 2;3(8):100543. doi: 10.1016/j.crmeth.2023.100543. eCollection 2023 Aug 28.
Cell Rep Methods. 2023.
PMID: 37671027
Free PMC article.
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Gaps and complex structurally variant loci in phased genome assemblies.
Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C; Human Pangenome Reference Consortium; Korbel JO, Paten B, Marschall T, Eichler EE.
Porubsky D, et al.
Genome Res. 2023 Apr;33(4):496-510. doi: 10.1101/gr.277334.122. Epub 2023 May 10.
Genome Res. 2023.
PMID: 37164484
Free PMC article.
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