How Do We Deliver Precision Health at Scale for All?
summary
Built a CLIA CAP lab in Miami and a Biobank of the Americas that already stores 80,000 samples (62,000 recontactable), sequences ~10,000 this year with a goal of 40,000 next year and 2.5M total; repurposes COVID diagnostic swabs to get host low‑pass genomes, viral RNA, HLA and metagenomes linked to EHR; develops federated discovery software and a local‑ancestry tool called Genomix to run admixture mapping that finds strong African and Oceanian signals and HLA associations (e.g. HLA‑B52, CW15 protective) and PRS ties to thrombosis and post‑infectious syndromes.
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chapters (5)
- 0:00Start
- 2:56Case Study: UK Biobank Exome Sequencing Consortium
- 9:54Our first sequencing pilot reveals a diverse population
- 14:46Machine learning models separate exposure with ancestry to identity HLA protection (Cw15) and susceptibility (B7/A31) alleles
- 19:12COVID19 genetic findings point to three major pathways
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