Frequency and signature of somatic variants in 1461 human brain exomes.

ABSTRACT:

Purpose

To systematically study somatic variants arising during development in the human brain across a spectrum of neurodegenerative disorders.

Methods

In this study we developed a pipeline to identify somatic variants from exome sequencing data in 1461 diseased and control human brains. Eighty-eight percent of the DNA samples were extracted from the cerebellum. Identified somatic variants were validated by targeted amplicon sequencing and/or PyroMark® Q24.

Results

We observed somatic coding variants present in >10% of sampled cells in at least 1% of brains. The mutational signature of the detected variants showed a predominance of C>T variants most consistent with arising from DNA mismatch repair, occurred frequently in genes that are highly expressed within the cen

SUBMITTER: Wei W 

PROVIDER: S-EPMC6544539 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature