Complex genetic variation in nearly complete human genomes
Logsdon G, Ebert P, Audano P, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D, Paisie C, Harvey W, Zhao X, Martino G, Henglin M, Munson K, Rabbani K, Chin C, Gu B, Ashraf H, Scholz S, Austine-Orimoloye O, Balachandran P, Bonder M, Cheng H, Chong Z, Crabtree J, Gerstein M, Guethlein L, Hasenfeld P, Hickey G, Hoekzema K, Hunt S, Jensen M, Jiang Y, Koren S, Kwon Y, Li C, Li H, Li J, Norman P, Oshima K, Paten B, Phillippy A, Pollock N, Rausch T, Rautiainen M, Song Y, Söylev A, Sulovari A, Surapaneni L, Tsapalou V, Zhou W, Zhou Y, Zhu Q, Zody M, Mills R, Devine S, Shi X, Talkowski M, Chaisson M, Dilthey A, Konkel M, Korbel J, Lee C, Beck C, Eichler E, Marschall T. Complex genetic variation in nearly complete human genomes. Nature 2025, 644: 430-441. PMID: 40702183, PMCID: PMC12350169, DOI: 10.1038/s41586-025-09140-6.Peer-Reviewed Original ResearchConceptsHuman genomeStructural variantsDiverse human genomesShort-read dataComplex structural variantsMobile element insertionsSequence continuityDisease association studiesComplex structural variationsMajor histocompatibility complexComplex genetic variationPangenome referenceGenotyping accuracyHuman centromeresWhole genomeHypomethylated regionsElement insertionsRepeat arrayKinetochore attachmentComplex locusAssociation studiesGenetic variationEpigenetic analysisGenomeCentromere
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply