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

〇Yumi Yamaguchi-Kabata¹, Jun Yasuda^1,2, Seizo Koshiba¹, Akira Uruno¹, Yoichi Suzuki^1,3, Nobuo Fuse¹, Fumiki Katsuoka¹, Hiroshi Kawame¹, Kaname Kojima¹, Masao Nagasaki¹, Takahiro Mimori¹, Shu Tadaka¹, Gen Tamiya¹, Osamu Tanabe^1,4, 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