The Molecular Biology Society of Japan

[1P-0015] Estimating carrier frequency of newborn screening disorders by using the 3.5KJPN whole-genome reference panel

〇Yumi Yamaguchi-Kabata1, Jun Yasuda1,2, Seizo Koshiba1, Akira Uruno1, Yoichi Suzuki1,3, Nobuo Fuse1, Fumiki Katsuoka1, Hiroshi Kawame1, Kaname Kojima1, Masao Nagasaki1, Takahiro Mimori1, Shu Tadaka1, Gen Tamiya1, Osamu Tanabe1,4, Nobuo Yaegashi1, Shigeo Kure1, Kengo Kinoshita1, Masayuki Yamamoto1 (1.Tohoku Medical Megabank Organization, Tohoku Univ, 2.Miyagi Cancer Center Res Inst, 3.Ageo Central General Hospital, 4.Radiation Effects Res Foundation Hiroshima Lab)

genome cohort study, congenital metabolic disorder, newborn screening diseases, genetic disease, biocuration

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