Debora Marks
@deboramarks.bsky.social
Discover the Languages of Biology
Build computational models to (help) solve biology? Join us! https://www.deboramarkslab.com
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Build computational models to (help) solve biology? Join us! https://www.deboramarkslab.com
DM or mail me!
Agree for now maybe .. but, maybe, we will get to the point we don’t need family to discover strong variant effects?
Some suggestion this might be true .. see www.medrxiv.org/content/10.1... “Proteome-wide model for human disease genetics”
Some suggestion this might be true .. see www.medrxiv.org/content/10.1... “Proteome-wide model for human disease genetics”
Proteome-wide model for human disease genetics
Identifying variants driving disease accelerates both genetic diagnosis and therapeutic development, but missense variants still present a bottleneck as their effects are less straightforward than tru...
www.medrxiv.org
May 26, 2025 at 11:23 PM
Agree for now maybe .. but, maybe, we will get to the point we don’t need family to discover strong variant effects?
Some suggestion this might be true .. see www.medrxiv.org/content/10.1... “Proteome-wide model for human disease genetics”
Some suggestion this might be true .. see www.medrxiv.org/content/10.1... “Proteome-wide model for human disease genetics”
Important new paper from the Dias-Frazer lab @CRG in Barcelona - needed to be shown. Next-stop non coding variation :)
May 26, 2025 at 11:16 PM
Important new paper from the Dias-Frazer lab @CRG in Barcelona - needed to be shown. Next-stop non coding variation :)
Interested in working with us in trying to solve human genetics? Great talk at #VariantEffect25. by @roseorenbuch-art.bsky.social - now the rest of the genome and complex diseases! Contact us by DM or [email protected] if interested.
May 23, 2025 at 2:14 PM
Interested in working with us in trying to solve human genetics? Great talk at #VariantEffect25. by @roseorenbuch-art.bsky.social - now the rest of the genome and complex diseases! Contact us by DM or [email protected] if interested.