De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations

The majority of the human reference genome assembly is represented as a single consensus haplotype. Here, Wong et al. analyze de novo assemblies of 17 diverse, haplotype-resolved genomes to gain insights into the structure of genetic diversity and compile a list of alternative haplotypes across popu...

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Autores principales: Karen H. Y. Wong, Michal Levy-Sakin, Pui-Yan Kwok
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/43b13b0e4f3246f98fc4568886f9a55e
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