Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Human Genome Variation
Nagaoka, Shinichi S; Yamaguchi-Kabata, Yumi Y; Shiga, Naomi N; Tachibana, Masahito M; Yasuda, Jun J; Tadaka, Shu S; Tamiya, Gen G; Fuse, Nobuo N; Kinoshita, Kengo K; Kure, Shigeo S; Murotsuki, Jun J; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Sugawara, Junichi J