RT Journal Article
SR Electronic
T1 3.5KJPNv2, An allele frequency panel of 3,552 Japanese Individuals
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 529529
DO 10.1101/529529
A1 Shu Tadaka
A1 Fumiki Katsuoka
A1 Masao Ueki
A1 Kaname Kojima
A1 Satoshi Makino
A1 Sakae Saito
A1 Akihito Otsuki
A1 Chinatsu Gocho
A1 Mika Sakurai-Yageta
A1 Inaho Danjoh
A1 Ikuko N. Motoike
A1 Yumi Yamaguchi-Kabata
A1 Matsuyuki Shirota
A1 Seizo Koshiba
A1 Masao Nagasaki
A1 Naoko Minegishi
A1 Atsushi Hozawa
A1 Shinichi Kuriyama
A1 Atsushi Shimizu
A1 Jun Yasuda
A1 Nobuo Fuse
A1 the Tohoku Medical Megabank Project Study Group
A1 Gen Tamiya
A1 Masayuki Yamamoto
A1 Kengo Kinoshita
YR 2019
UL http://biorxiv.org/content/early/2019/01/25/529529.abstract
AB The first step towards realizing personalized healthcare is to catalog the genetic variations in a population. Since the dissemination of individual-level genomic information is strictly controlled, it will be useful to construct population-level allele frequency panels and to provide them through easy-to-use interfaces.In the Tohoku Medical Megabank Project, we have sequenced nearly 4,000 individuals from a Japanese population, and constructed an allele frequency panel of 3,552 individuals after removing related samples. The panel is called the 3.5KJPNv2. It was constructed by using a standard pipeline including the 1KGP and gnomAD algorithms to reduce technical biases and to allow comparisons to other populations. Our database is the first largescale panel providing the frequencies of variants present on the X chromosome and on the mitochondria in the Japanese population. All the data are available on our original database at https://jmorp.megabank.tohoku.ac.jp.