Article

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

2021-10-18

Abstract excerpt

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. Here we introduce SVRare, an application that aggregates structural variants (SV) called by other tools, and efficiently annotates rare SVs to aid dcSVs discovery. Applied in the Genomics England (GEL) research environ...

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Literature Corpus work: b49397e0-f947-5a97-adea-6f2924ffe449
DOI: 10.1101/2021.10.15.21265069

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