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...
medrxiv.org
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
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 ...