Nice. One graph to rule them all, and with their DNA bind them. (I've always thought splice graphs on genome graphs was the way to go; I do think there is a profile-HMM extension of "traditional" profile models to capture evolution). Great work @[email protected] etal

RT @[email protected]

Adding population variation into RNA-seq analysis to enable haplotype-specific transcript identification, finally out in Nature Methods: https://rdcu.be/c3xKq

🐦🔗: https://twitter.com/BenedictPaten/status/1615054386086182912

@wes_goar presenting on the #GA4GH #VRS standard at #PSB23, and illustrating the challenges of standardizing concepts across genomics communities (i.e. VCF, HGVS, PGx, etc.)

Check out the associated publication: http://psb.stanford.edu/psb-online/proceedings/psb23/goar.pdf

At #PSB2023, Heidi Rehm: gnomAD v4 coming early 2023. Will be GRCh38. If your lab has not migrated to h38, better do it soon!

For context, the genome build Heidi and the gnomAD team are using was released by the genome reference consortium in 2014.

Really useful legal guide from the folks at the EFF for people running fediverse servers:

https://www.eff.org/deeplinks/2022/12/user-generated-content-and-fediverse-legal-primer

(disclosure: I advised them on this work a bit)