🚨 New preprint led by super⭐ PhD student Anthony (@amcguigan.bsky.social) 🥳
He studied homozygous deletions genome-wide using genome sequencing data in the amazing @genomicsengland.bsky.social NGRL
See Anthony's 🧵for a summary 👇
Nicky Whiffin
I’m delighted to share our work leveraging homozygous deletions to discover rare disease diagnoses and novel disease genes - see the preprint here: www.medrxiv.org/content/10.6...
Structural variants (SVs) can disrupt gene function and contribute to pathogenesis of rare disorders. Here, we created a genome-wide knockout dataset across 125,730 individuals with genome sequencing ...
