SVenX: A highly parallelized pipeline for structural variation detection using linked read whole genome sequencing data
Genomic rearrangements larger than 50 bp are called structural variants. As a group, they affect the phenotypic diversity among humans and have been associated with many human disorders including neurodevelopmental disorder and cancer. Recent advances in whole genome sequencing (WGS) technologies have made it possible to identify many more disease-causing genetic variants relevant in clinical diag