Project: SRP126192
Organism: Homo sapiens
Study Title: Cell Identity Determination In Human Brain: Somatic mutation and cell lineage
Center Name: CHILDREN'S HOSPITAL
Description: Genetic mutations causing human disease are conventionally thought to be inherited from one's parents and present in all somatic (body) cells. Increasingly however, somatic mutations are implicated in neurological diseases. Somatic mutations that arise during the cell divisions of prenatal brain development are inherited in clonal fashion and can cause neurodevelopmental diseases, even when present at low levels of mosaicism. In this study we use whole genome, RNA, and ATAC sequencing of single cells and bulk tissue to identify somatic mutations in control, and some disease, brains to: 1) identify and catalogue the mutations which shape the somatic neuronal genome; 2) perform a cell lineage analysis of the human brain using clonal somatic mutations in cortical neurons; 3) determine... (for more see dbGaP study page.)
Cell Type: notcancer-neuron
Median Sequencing Depth: 0.000000
Publication: Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements
DOI: 10.1038/s41588-022-01180-2