GenomeSeb
@genomeseb.bsky.social
#Genomic #MedicalScientist, technophile, progress enthusiast. All views my own.
Already so many benefits, and this is only just the start for Talos!
May 26, 2025 at 3:42 PM
Already so many benefits, and this is only just the start for Talos!
@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...
>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...
May 26, 2025 at 3:38 PM
@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...
>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...
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
May 26, 2025 at 9:49 AM
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
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.
May 26, 2025 at 6:39 AM
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.