dgmacarthur.bsky.social
Genomics, big data, open science, diversity. Director of the Centre for Population Genomics, focused on building a more equitable future for genomic medicine. Opinions my own.
66 posts
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1,277 following
Prolific Poster
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We've worked on eQTLs and CRISPR for 10+ years now, and 4 years ago I hypothesized about their orthogonal strengths and weaknesses, for a review paper with @dgmacarthur.bsky.social. It’s exciting to finally have enough empirical data for a systematic analysis.
www.science.org/doi/10.1126/...
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There’s a second preprint on the way with more clinical details, and clearly many more answers to come for undiagnosed families around the world. RNU4-2 is the gene that keeps on giving…
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In what is becoming a pretty well-oiled routine, Nicky reached out to see if we had Australian hits, and minutes later @cassimons.bsky.social had found a bunch of them. Now over 20 families diagnosed globally, many with unusual white matter changes - a distinct new recessive syndrome.
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Series E funding, uh, finds a way
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OK, it’s not yet a *full* T. rex, but it totally has T. rex keratin
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“On some level, these people still don’t believe AI is real. They were telling the [UK] gov't that there was nothing novel about the transformer [the architecture that underpins LLMs] and that they should be focused on regulating upstream applications” www.chalmermagne.com/p/how-not-to...