Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent–child trio data. We present 64 assembled haplotypes from 32 diverse human genomes. These highly contiguous haplotype assemblies (average cont...

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Bibliografiska uppgifter
I publikationen:Science
Huvudupphovsmän: Ebert, Peter, Audano, Peter A., Zhu, Qihui, Rodriguez-Martin, Bernardo, Porubsky, David, Bonder, Marc Jan, Sulovari, Arvis, Ebler, Jana, Zhou, Weichen, Mari, Rebecca Serra, Yilmaz, Feyza, Zhao, Xuefang, Hsieh, PingHsun, Lee, Joyce, Kumar, Sushant, Lin, Jiadong, Rausch, Tobias, Chen, Yu, Ren, Jingwen, Santamarina, Martin, Höps, Wolfram, Ashraf, Hufsah, Chuang, Nelson T., Yang, Xiaofei, Munson, Katherine M., Lewis, Alexandra P., Fairley, Susan, Tallon, Luke J., Clarke, Wayne E., Basile, Anna O., Byrska-Bishop, Marta, Corvelo, André, Evani, Uday S., Lu, Tsung-Yu, Chaisson, Mark J.P., Chen, Junjie, Li, Chong, Brand, Harrison, Wenger, Aaron M., Ghareghani, Maryam, Harvey, William T., Raeder, Benjamin, Hasenfeld, Patrick, Regier, Allison A., Abel, Haley J., Hall, Ira M., Flicek, Paul, Stegle, Oliver, Gerstein, Mark B., Tubio, Jose M.C., Mu, Zepeng, Li, Yang I., Shi, Xinghua, Hastie, Alex R., Ye, Kai, Chong, Zechen, Sanders, Ashley D., Zody, Michael C., Talkowski, Michael E., Mills, Ryan E., Devine, Scott E., Lee, Charles, Korbel, Jan O., Marschall, Tobias, Eichler, Evan E.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2021
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC8026704/
https://ncbi.nlm.nih.gov/pubmed/33632895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.abf7117
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