whole genome sequencing

As exome and whole-genome sequencing cohorts grow in size, the data they produce strains the limits of current tools and data structures. The Variant Call Format (VCF) was originally created as part of the 1,000 Genomes project. Flexible and concise …

In this family-bsed case study, we discovered elevated elevatd levels of common *and* rare variant polygenic risk via whole genome sequencing.

Whole genome sequencing of a cohort enriched for language impairment