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GenomeSeb

@genomeseb.bsky.social

157 followers 273 following 7 posts

#Genomic #MedicalScientist, technophile, progress enthusiast. All views my own.

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GenomeSeb @genomeseb.bsky.social · 26/05/2025

Already so many benefits, and this is only just the start for Talos!

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GenomeSeb @genomeseb.bsky.social · 26/05/2025

@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025 >250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable! Pre-print now out: www.medrxiv.org/content/10.1... Talos is #portable #opensource: github.com/populationge...

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GenomeSeb @genomeseb.bsky.social · 26/05/2025

Thank you @ahoischen.bsky.social and Lot Snijders Blok for hosting the Poster lightalk session. It was indeed a lot of fun, and a lot of great work presented. #ESHG2025

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GenomeSeb @genomeseb.bsky.social · 26/05/2025

Should be an exciting session this morning in Brown 3 #Eshg2025 discussing the latest in genomic newborn screening. Kicking off is the amazing @zornitza.bsky.social with an interactive hot topic session on what conditions to include.

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