Plenge Lab
Date posted: December 9, 2018 | Author: | No Comments »

Categories: Drug Discovery Embedded Genomics Human Genetics

[I am an employee of Celgene. All opinions expressed here are my own.]

A meeting was recently convened to discuss a roadmap for understanding the genetics of common diseases (search Twitter for #cdcoxf18). I presented my vision of a genetics dose-response portal (slides here; link to related 2018 ASHG talk here). The organizers (@RachelGLiao, @markmccarthyoxf, @ceclindgren, Rory Collins [Oxford], Judy Cho [New York], @NancyGenetics, @dalygene, @eric_lander) asked participants to share their vision. I thought I would blog about my mine.

You’ll notice my vision is ambitious. Nonetheless, I believe these objectives are feasible to accomplish within a 3-year (Phase 1) and 7-year (Phase 2) time frame. Phase 1 would start immediately and would guide projects for Phase 2. In reality, many aspects of Phase 1 are already underway today (e.g., GWAS catalogue at EBI; Global Alliance for Genomics and Health [GA4GH] data sharing methods). Phase 2 consists of two parts: federation of global biobanks and experimental validation of variants, genes and pathways. Some components of Phase 2 could start today (e.g., exome sequencing in >100,000 cases selected from existing case-control cohorts and biobanks; human knockout project). As with Phase 1, many components of Phase 2 are already underway (federation of existing biobanks [e.g., UK Biobank with FinnGen], technologies for high-throughput CRISPR mutagenesis and single-cell eQTL analysis).…

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