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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/a3bc9687e9a14bd5bcb2a6995a710521
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spelling	oai:doaj.org-article:a3bc9687e9a14bd5bcb2a6995a7105212021-12-02T14:11:45ZConstruction and integration of three de novo Japanese human genome assemblies toward a population-specific reference10.1038/s41467-020-20146-82041-1723https://doaj.org/article/a3bc9687e9a14bd5bcb2a6995a7105212021-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-20146-8https://doaj.org/toc/2041-1723Human 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 this reference genome.Jun TakayamaShu TadakaKenji YanoFumiki KatsuokaChinatsu GochoTakamitsu FunayamaSatoshi MakinoYasunobu OkamuraAtsuo KikuchiSachiyo SugimotoJunko KawashimaAkihito OtsukiMika Sakurai-YagetaJun YasudaShigeo KureKengo KinoshitaMasayuki YamamotoGen TamiyaNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
description	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 this reference genome.
format	article
author	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
author_facet	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
author_sort	Jun Takayama
title	Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
title_short	Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
title_full	Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
title_fullStr	Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
title_full_unstemmed	Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
title_sort	construction and integration of three de novo japanese human genome assemblies toward a population-specific reference
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a3bc9687e9a14bd5bcb2a6995a710521
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Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

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