Article
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Journal of human genetics - 1 Jun 2016
Higasa Koichiro, Miyake Noriko, Yoshimura Jun, Okamura Kohji, Niihori Tetsuya, Saitsu Hirotomo, Doi Koichiro, Shimizu Masakazu, Nakabayashi Kazuhiko, Aoki Yoko, Tsurusaki Yoshinori, Morishita Shinichi, Kawaguchi Takahisa, Migita Osuke, Nakayama Keiko, Nakashima Mitsuko, Mitsui Jun, Narahara Maiko, Hayashi Keiko, Funayama Ryo, Yamaguchi Daisuke, Ishiura Hiroyuki, Ko Wen-Ya, Hata Kenichiro, Nagashima Takeshi, Yamada Ryo, Matsubara Yoichi, Umezawa Akihiro, Tsuji Shoji, Matsumoto Naomichi, Matsuda Fumihiko
Abstract excerpt
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies for prioritizing causative variants from many candidates to explain the disease phenotype are still far from being established, because the population-specific frequency spectrum of genetic variation has not been...
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