Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!
Caroline Wright
@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...