Nature Communications (Jan 2021)
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
- 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
Affiliations
- Jun Takayama
- Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University
- Shu Tadaka
- Tohoku Medical Megabank Organization, Tohoku University
- Kenji Yano
- Tohoku Medical Megabank Organization, Tohoku University
- Fumiki Katsuoka
- Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University
- Chinatsu Gocho
- Tohoku Medical Megabank Organization, Tohoku University
- Takamitsu Funayama
- Tohoku Medical Megabank Organization, Tohoku University
- Satoshi Makino
- Tohoku Medical Megabank Organization, Tohoku University
- Yasunobu Okamura
- Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University
- Atsuo Kikuchi
- Department of Pediatrics, Tohoku University Graduate School of Medicine
- Sachiyo Sugimoto
- Tohoku Medical Megabank Organization, Tohoku University
- Junko Kawashima
- Tohoku Medical Megabank Organization, Tohoku University
- Akihito Otsuki
- Tohoku Medical Megabank Organization, Tohoku University
- Mika Sakurai-Yageta
- Tohoku Medical Megabank Organization, Tohoku University
- Jun Yasuda
- Tohoku Medical Megabank Organization, Tohoku University
- Shigeo Kure
- Tohoku Medical Megabank Organization, Tohoku University
- Kengo Kinoshita
- Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University
- Masayuki Yamamoto
- Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University
- Gen Tamiya
- Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University
- DOI
- https://doi.org/10.1038/s41467-020-20146-8
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 14
Abstract
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.
