SVRare: discovering disease-causing structural variants in the 100K Genomes Project
Jing Yu, Anita Szabó, Alistair T. Pagnamenta, Ahmed K. Shalaby, Edoardo Giacopuzzi, Jenny C. Taylor, Deborah J. Shears, Nikolas Pontikos, Genevieve Wright, Michel Michaelides, Stephanie Halford, Susan M. Downes
SVRare improves the discovery of disease-causing structural variants by aggregating and annotating rare variants from whole genome sequencing data in the 100K Genomes Project.
medRxiv · Oct 15, 2021 · PreprintGenetic & Genomic Medicine