Finding disease-causing structural variants (dcSV) for rare disorders has been difficult. Here we introduce SVRare, an app to facilitate dcSV discovery. A thread on its application in the 100K Genomes Project (100KGP). 1/11 @GenomicsEngland
medrxiv.org/content/10.110…
medrxiv.org/content/10.110…
www.medrxiv.org SVRare: discovering disease-causing structural variants in the 100K Genomes Project Discovery of disease-causing structural variants (dcSV) from whole genome sequencing data is difficult due to high number of false positives and a lack of efficient way to estimate allele frequency.... 