Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

Human reference genomes are typically constructed from few individuals, and are biased towards European and African genomes. Here, the authors assemble three Japanese genomes to create a population-specific reference genome. They then demonstrate improved variant calling from exome sequencing with t...

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Bibliographic Details
Main Authors: Jun Takayama, Shu Tadaka, Kenji Yano, Fumiki Katsuoka, Chinatsu Gocho, Takamitsu Funayama, Satoshi Makino, Yasunobu Okamura, Atsuo Kikuchi, Sachiyo Sugimoto, Junko Kawashima, Akihito Otsuki, Mika Sakurai-Yageta, Jun Yasuda, Shigeo Kure, Kengo Kinoshita, Masayuki Yamamoto, Gen Tamiya
Format: Article
Language:English
Published: Nature Publishing Group 2021-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-020-20146-8

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https://doi.org/10.1038/s41467-020-20146-8

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