Tanner D Jensen, Bohan Ni, Chloe Reuter, John E Gorzynski, Sarah Fazal, Devon E Bonner, Rachel Allison Ungar, Pagé C Goddard, Archana Natarajan Raja, Euan A Ashley, Jonathan A Bernstein, Stephan Zuchner, Michael D Greicius, Stephen B Montgomery, Michael C Schatz, Matthew T Wheeler, Alexis Battle
Rare structural variants (SVs) - insertions, deletions, and complex rearrangements - can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed Oxford Nanopore long-read genomes of 68 individuals from the Undiagnosed Disease Network (UDN) with no previously identified diagnostic mutations from short-read sequencing. Using our optimized SV detection pipelines and 571 control long-read genomes, we detected 716 long-read rare (MAF < 0.01) SV alleles per genome on average, achieving a 2...
March 26, 2024: medRxiv