Article
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference.
Nature communications - 11 Jan 2021
Takayama Jun, Tadaka Shu, Yano Kenji, Katsuoka Fumiki, Gocho Chinatsu, Funayama Takamitsu, Makino Satoshi, Okamura Yasunobu, Kikuchi Atsuo, Sugimoto Sachiyo, Kawashima Junko, Otsuki Akihito, Sakurai-Yageta Mika, Yasuda Jun, Kure Shigeo, Kinoshita Kengo, Yamamoto Masayuki, Tamiya Gen
Abstract excerpt
The complete human genome sequence is used as a reference for next-generation sequencing analyses. However, some ethnic ancestries are under-represented in the reference genome (e.g., GRCh37) due to its bias toward European and African ancestries. Here, we perform de novo assembly of three Japanese male genomes using > 100× Pacific Biosciences long reads and Bionano Genomics optical maps per sample. We integrate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.