David A Knowles

davidaknowles.bsky.social

07 May 2026 12:35

#MLCB2026 will be November 16-17 at (once again) @nygenome.org, NYC! Paper/abstract deadline is July 1st, more deets at mlcb.org. We'll be opening in-person registration alongside paper decisions. Mailing list to stay in the loop: groups.google.com/g/mlcb. Keynotes TBA! Please RP!

Debora Marks

deboramarks.bsky.social

26 November 2025 13:25

New paper “Proteome-wide model for human disease genetics” is now live at Nature Genetics: rdcu.be/eRu7K popEVE (pop.evemodel.org) finds the needles in the haystacks of human genetic variation:

Jonathan Frazer

jonnyfrazer.bsky.social

26 November 2025 13:25

LFB is NeurIPS-bound! 🎉 Mafalda, @cwjpugh.bsky.social and I will be in San Diego next week for NeurIPS -- happy to chat variant effect prediction (or just say hi). “From Likelihood to Fitness: Improving Variant Effect Prediction in Protein and Genome Language Models” openreview.net/pdf/a151f62e...

Jonathan Frazer

jonnyfrazer.bsky.social

26 November 2025 13:24

popEVE is out in Nature Genetics! 🎉 We built a proteome-wide model that combines cross-species and human population variation to rank missense variants by disease severity and help diagnose rare genetic disorders. rdcu.be/eRu7K

Miquel Anglada-Girotto

m1quelag.bsky.social

27 October 2025 14:05

Wouldn’t it be cool to leverage the throughput of single-cell data to study splicing regulation even when we lack exon resolution? 😀 Here’s the peer-reviewed version of our paper on how we can measure changes in splicing factor activity in virtually any single-cell dataset: doi.org/10.1093/nar/...