Somatic Mutations in Single Neurons

Abstract

Somatic mutations occur during brain development and are increasingly implicated as a cause of neurogenetic disease. However, the frequency and patterns of somatic mutations in the human brain have not been explored in detail. We will describe our analysis of high-coverage whole-genome sequencing of single neurons from normal individuals. These data have allowed us to identify somatic mutations including single nucleotide variants and retrotransposition events, enabling tracking of cell lineage clones and revealing a polyclonal architecture of the cerebral cortex.