2024
DOI: 10.1101/2024.03.22.24304565
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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Tanner D Jensen,
Bohan Ni,
Chloe Reuter
et al.

Abstract: 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… Show more

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