ksamocha.bsky.social
Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
👤 Joined on 26 September 2023
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@ksamocha.bsky.socialChai and cookie recommendation for #ASHG26: walk ~6 blocks up de Bleury to Plentea, on Rue St Catherine. So good!
Show PostExcited to share our new preprint "A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome" tinyurl.com/RENUsig Led by super⭐ duo @ruebenadawes.bsky.social @alexblakes.bsky.social We show that just 6 alternative 5'splice site events perfectly predict ReNU syndrome 🧬 🧵 1/4
Show PostI highly encourage people not to give AI slop presentations. Just throw something bad on some slides, it will be much more compelling than a glossy content that you didn't produce. If we want Claude to present, we can generate that at home.
Show PostExcited to share that I have started my own group at the Dept of Clinical Neurosciences, University of Cambridge, and we're hiring! www.cam.ac.uk/jobs/researc... www.cam.ac.uk/jobs/researc... @cneurodept.bsky.social
Show PostExcited to announce that I'll be joining the Department of Genetics at UGA (@universityofga.bsky.social) in January! My lab will use model systems, DNA sequencing, and new computational tools to study mutation rate evolution across the tree of life.
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