クワバラ　ヒトシ   KUWABARA Hitoshi   桑原　斉    所属   埼玉医科大学  医学部 神経精神科・心療内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.
掲載誌名	正式名：BMC medical genomics
巻・号・頁	13(1),55-55頁
著者・共著者	Maria Yamasaki,Takashi Makino,Seik-Soon Khor,Hiromi Toyoda,Taku Miyagawa,Xiaoxi Liu,Hitoshi Kuwabara,Yukiko Kano,Takafumi Shimada,Toshiro Sugiyama,Hisami Nishida,Nagisa Sugaya,Mamoru Tochigi,Takeshi Otowa,Yuji Okazaki,Hisanobu Kaiya,Yoshiya Kawamura,Akinori Miyashita,Ryozo Kuwano,Kiyoto Kasai,Hisashi Tanii,Tsukasa Sasaki,Makoto Honda,Katsushi Tokunaga
発行年月	2020/03
概要	BACKGROUND: Copy number variants (CNVs) have been reported to be associated with diseases, traits, and evolution. However, it is hard to determine which gene should have priority as a target for further functional experiments if a CNV is rare or a singleton. In this study, we attempted to overcome this issue by using two approaches: by assessing the influences of gene dosage sensitivity and gene expression sensitivity. Dosage sensitive genes derived from two-round whole-genome duplication in previous studies. In addition, we proposed a cross-sectional omics approach that utilizes open data from GTEx to assess the effect of whole-genome CNVs on gene expression.
DOI	10.1186/s12920-020-0699-9
PMID	32223758