Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.

doi:10.1186/s12920-020-0699-9

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Article

Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.

BMC medical genomics - 29 Mar 2020

Yamasaki Maria, Makino Takashi, Khor Seik-Soon, Toyoda Hiromi, Miyagawa Taku, Liu Xiaoxi, Kuwabara Hitoshi, Kano Yukiko, Shimada Takafumi, Sugiyama Toshiro, Nishida Hisami, Sugaya Nagisa, Tochigi Mamoru, Otowa Takeshi, Okazaki Yuji, Kaiya Hisanobu, Kawamura Yoshiya, Miyashita Akinori, Kuwano Ryozo, Kasai Kiyoto, Tanii Hisashi, Sasaki Tsukasa, Honda Makoto, Tokunaga Katsushi

Abstract excerpt

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...

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Identifiers

PMID: 32223758
DOI: 10.1186/s12920-020-0699-9
PMCID: PMC7104509

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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