Fig. 1. An overview of approaches employed by the BSMN.

The general approach of the BSMN is to identify mosaic variants in primary human brain tissue from large cohorts of neurotypical individuals and neuropsychiatric disease patients. The methods include bulk sequencing of tissues or sorted neurons (top), sequencing of single cells after whole-genome amplification (middle), or clonal expansion from single cells followed by bulk sequencing (bottom). Each method offers a trade-off between sensitivity and specificity.