2 papers
q-bio.GN2025
needLR: Long-read structural variant annotation with population-scale frequency estimation
Jonas A. Gustafson, Jiadong Lin, Evan E. Eichler +1
Summary: We present needLR, a structural variant (SV) annotation tool that can be used for filtering and prioritization of candidate pathogenic SVs from long-read sequencing data u…
q-bio.OT2024
GREGoR: Accelerating Genomics for Rare Diseases
Moez Dawood, Ben Heavner, Marsha M. Wheeler +31
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to…