Article
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Journal of human genetics - 1 Feb 2018
Yamaguchi-Kabata Yumi, Yasuda Jun, Tanabe Osamu, Suzuki Yoichi, Kawame Hiroshi, Fuse Nobuo, Nagasaki Masao, Kawai Yosuke, Kojima Kaname, Katsuoka Fumiki, Saito Sakae, Danjoh Inaho, Motoike Ikuko N, Yamashita Riu, Koshiba Seizo, Saigusa Daisuke, Tamiya Gen, Kure Shigeo, Yaegashi Nobuo, Kawaguchi Yoshio, Nagami Fuji, Kuriyama Shinichi, Sugawara Junichi, Minegishi Naoko, Hozawa Atsushi, Ogishima Soichi, Kiyomoto Hideyasu, Takai-Igarashi Takako, Kinoshita Kengo, Yamamoto Masayuki
Abstract excerpt
Clarifying allele frequencies of disease-related genetic variants in a population is important in genomic medicine; however, such data is not yet available for the Japanese population. To estimate frequencies of actionable pathogenic variants in the Japanese population, we examined the reported pathological variants in genes recommended by the American College of Medical Genetics and Genomics (ACMG) in our...
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