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Article

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.

Molecular psychiatry - 1 Oct 2023

Nishioka Masaki, Takayama Jun, Sakai Naomi, Kazuno An-A, Ishiwata Mizuho, Ueda Junko, Hayama Takashi, Fujii Kumiko, Someya Toshiyuki, Kuriyama Shinichi, Tamiya Gen, Takata Atsushi, Kato Tadafumi

Abstract excerpt

Bipolar disorder (BD) is a global medical issue, afflicting around 1% of the population with manic and depressive episodes. Despite various genetic studies, the genetic architecture and pathogenesis of BD have not been fully resolved. Besides germline variants, postzygotic mosaic variants are proposed as new candidate mechanisms contributing to BD. Here, we performed extensive deep exome sequencing (DES, ~300×)...

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PMID: 37248276
DOI: 10.1038/s41380-023-02096-x
PMCID: PMC10827672

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