Thanks to @cegs-cmap.bsky.social @brotmanbaty.bsky.social @chanzuckerberg.bsky.social and others for support!!!

end

@danweihuangfu.bsky.social @benlehner.bsky.social ner.bsky.social @travelingeneticist.bsky.social @anneotation.bsky.social sky.social @poseypod.bsky.social ky.social @leastarita.bsky.social starita.bsky.social @hyejungwon.bsky.social won.bsky.social @heidirehm.bsky.social

And many others!!!

6/n

Thanks to all who attended the meeting and worked on the ideas! @mehurles.bsky.social @davidjadams.bsky.social @muffley.bsky.social @ewanbirney.bsky.social @nadavahituv.bsky.social @bennibolo.bsky.social @johndoench.bsky.social @ee-reh-neh.bsky.social @amglazer.bsky.social

5/n

The roadmap lays out how we get there, with heaps of data production, amazing new technologies, international coordination and clinical implementation

4/n

We came up with 2 key goals for 2030:

-resolve variants of uncertain significance ~1000 high need genes using at-scale variant effect experiments and models

-measuring the full stack of molecular and cellular phenotypes associated with disease-causing variants in a smaller set of genes

3/n

Last year, we convened a group of researchers, clinicians and others in Pittsburgh to craft a plan to measure and model the effects of all possible variants in human genes and regulatory regions

2/n