jamesfasham.bsky.social
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
👤 Joined on 06 Aralık 2024
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@jamesfasham.bsky.socialHere's a rare one! My old Psion friend @cyningstan.bsky.social kindly sent me this rather weird machine - a Geofox One. You don't see many of these around! It runs the same OS (EPOC32) as the Psion Series 5, but with a very odd form factor. No touch screen - just a slow track pad. Can I fix it??
Show PostExcited to announce this new publication - everything you ever wanted to know about the "average" human genome - from @exeter.ac.uk @nihrexeterbrc.bsky.social. Variation is the norm; everyone has rare, deleterious, de novo, and pathogenic variants! link.springer.com/article/10.1...
Show Post@hiwwright.bsky.social @rnbeaumont.bsky.social @jamesfasham.bsky.social @chundru.bsky.social @anna123.bsky.social @drarwood.bsky.social @mnweedon.bsky.social @drghawkes.bsky.social
Show PostFeels great to be back at #ASHG26 - started with some Adult Population Screening and about to dive into Newborn Genomic Screening. Lest I forget, also reviving #DessertsofASHG @jamesfasham.bsky.social @agnescaruso.bsky.social
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