Assistant Prof. Shu Tadaka and his colleagues published a new article about 3.5KJPNv2 on Human Genome Variation.

In this paper, we reported the construction of 3.5KJPNv2 whole-genome reference panel, which is based on the results of whole-genome analysis of 3,552 Japanese individuals. 3.5KJPNv2 is a database which contains allele frequency information of single nucleotide variations (SNV) and insertions and deletions (INDEL) in autosomes, X chromosome, and mitochondrial DNA. This is the first report of large-scale analysis of X chromosome and mitochondrial DNA in the Japanese population. In the construction of this database, methods for genome analysis were updated to be similar to international standards, and it makes easier to compare 3.5KJPNv2 with the results of other large-scale genome analyses projects. The 3.5 KJPNv2 data can be accessed through an user-friendly Web interface at jMorp (https://jmorp.megabank.tohoku.ac.jp). The 3.5 KJPNv2 is expected to be used by researchers and healthcare professionals to promote researches on personalized healthcare.

Article information

Title: 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

Published journal: Human Genome Variation

Authors: Shu Tadaka, Fumiki Katsuoka, Masao Ueki, Kaname Kojima, Satoshi Makino, Sakae Saito, Akihito Otsuki, Chinatsu Gocho, Mika Sakurai-Yageta, Inaho Danjoh, Ikuko N. Motoike, Yumi Yamaguchi-Kabata, Matsuyuki Shirota, Seizo Koshiba, Masao Nagasaki, Naoko Minegishi, Atsushi Hozawa, Shinichi Kuriyama, Atsushi Shimizu, Jun Yasuda, Nobuo Fuse, the Tohoku Medical Megabank Project Study Group, Gen Tamiya, Masayuki Yamamoto & Kengo Kinoshitao

Published date: 18 June 2019

Doi: 10.1038/s41439-019-0059-5

Related link

Change of the data access control of 3.5KJPNv2, allele frequency data in Japanese genome reference panel, to open category (2019/01/25)