🧬 New preprint! We present an All by All analysis in All of Us: common and rare variant association testing across 392,030 whole genomes and 3,602 phenotypes. 1.337 trillion tests, ~50k significant signals, all publicly browseable. www.medrxiv.org/content/10.6...
All of Us markedly boosts non-European representation. Nearly half of the significant signals are found only by meta-analysis. Effects are also consistent: across 140 burden associations marginally significant in ≥2 similarity groups, we saw zero opposite-direction effects
Large-scale genome-wide association studies (GWAS) and rare variant association studies (RVAS) from population biobanks provide valuable resources for gene discovery in complex human traits. We presen...
New rare-variant findings include pLoF in TIMD4 → elevated triglycerides, TREM1 → umbilical hernia, and TMEM127 → dermatophytosis. For TIMD4, common variants near the locus were known for lipid traits; the rare-variant evidence adds a direction of effect.
Huge team effort led by @wenhanl.bsky.social with collaborators across the Broad, VUMC, and the All of Us Research Program. This is a first release — looking forward to the next round as All of Us keeps growing and we integrate more biobanks
