🔄 Inversions predispose to recurrent deletions and duplications in chromsome 15q13.3. 🔁 Using de-novo assemblies of 10 patient-parent trios, we investigated how recurrent copy-number variants (CNVs) in the 15q13.3 locus arise. www.biorxiv.org/content/10.6... A brief tour (1/17)

🎉🧬! :)

Alex Hoischen@ahoischen.bsky.social · 2y ago

Image a set of 100 rare disease cases with the most difficult-to-detect mutations a human genetics lab can be faced with. …many of which very difficult or even impossible to detect with (short-read) sequencing methods, and/or requiring additional orthogonal tests… www.cell.com/ajhg/abstrac...