Building a Chinese pan-genome of 486 individuals

Qiuhui Li et al. report a pan-genome sequence study in Han Chinese genomes. They find 276 Mbp of DNA sequences (absent in the current human reference), and report that 46.646 Mbp common sequences improved the accuracy of variant calling and mapping rate when added to the reference genome.

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Detalles Bibliográficos
Autores principales: Qiuhui Li, Shilin Tian, Bin Yan, Chi Man Liu, Tak-Wah Lam, Ruiqiang Li, Ruibang Luo
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/40dbb44391654e2c801fd88dfa21b5bd
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Descripción
Sumario:Qiuhui Li et al. report a pan-genome sequence study in Han Chinese genomes. They find 276 Mbp of DNA sequences (absent in the current human reference), and report that 46.646 Mbp common sequences improved the accuracy of variant calling and mapping rate when added to the reference genome.