Zornitza Stark
@zornitza.bsky.social
#ESGH2025
🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data)
focus on specificity - only 0.7 candidates /trio
Diagnostic yield is 5%, 248/4,744
- higher in older cases 9% 2019 4% 2022
#esgh2025 In proteomics session Adam Butterworth talking on difficulties of finding valid instuments for MR when proteomics teachnologies do not always agree.
We are just wrapping up day 1 at #ESGH2025 in beautiful Milan. For those who want some extra fun while listening to the great science, you can play bingo.👇
I know multiple of these have already occurred.
