Article
Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.
Experimental & molecular medicine - 1 Aug 2024
Kim Il Bin, Kim Myeong-Heui, Jung Saehoon, Kim Woo Kyeong, Lee Junehawk, Ju Young Seok, Webster Maree J, Kim Sanghyeon, Kim Ja Hye, Kim Hyun Jung, Kim Junho, Kim Sangwoo, Lee Jeong Ho
Abstract excerpt
Low-level somatic mutations in the human brain are implicated in various neurological disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder (ASD), however, remains poorly understood. Here, we performed high-depth exome sequencing with an average read depth of 559.3x in 181 cortical, cerebellar, and peripheral tissue samples to identify brain somatic single nucleotide...
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