Will Salerno

TL;DR: US genome centers and NIH programs define WGS data processing standards and a flexible validation method, facilitating collaboration in human genetics research.

TL;DR: In this article, the authors used exome sequence data to investigate associations between rare genetic variants and seven COVID-19 outcomes in 586,157 individuals, including 20,952 with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), a respiratory illness causing hospitalization or death.

TL;DR: Analysis of synonymous and nonsynonymous substitutions in their homeodomain region suggests that these new Rhox paralogs duplicated so recently that their encoded proteins have not yet acquired distinct DNA‐binding specificities.

TL;DR: WGS data processing standards are defined that allow different groups to produce “functionally equivalent” results suitable for joint variant calling with minimal batch effects, which alleviates a key technical bottleneck for genome aggregation and helps lay the foundation for broad data sharing and community-wide “big-data” human genetics studies.