josepmercader.bsky.social
👤 Joined on 17 November 2024
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@josepmercader.bsky.socialDid you know that missense variants can also cause splicing defects? We found that ~2.7% of missense variants have SpliceAI>0.2, they reduce circulating protein levels consistent with loss-of-function, and can be diagnostic for rare diseases. New preprint: www.medrxiv.org/content/10.6...
Show PostPlease share! Fully funded PhD position (UK home fees) at U. of Dundee for someone interested in combining wet-lab (Dr Murdoch) and computational approaches (🙋♀️ 2nd supervisor), with plenty of scope for learning new skills across both areas. 🧪🧬 Deadline 21 September
Show PostOur lab is hiring a postdoc! You would work with clinical partners and the All of Us study to implement our genetic literacy measure, studying how people understand genetics and use it daily. Help us do social and behavioral research at the forefront of genomics: careers.ashg.org/jobs/22449118
Show PostALL BABIES ARE GOOD BABIES. THERE ARE NO BEST BABIES YOU ABSOLUTE MORONS.
Show PostbioRxiv/medRxiv have been dealing with endless bot attacks recently (plus usual DDOS stuff, etc). Tricky to address without impacting genuine users - many of you affected. Apologies. We're working with our hosting service on solutions & think we're getting there [he shouts in his Red Queen costume].
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