Software

CNView

CNView is an open-source tool written in R for visualization and annotation of copy-number variation from whole-genome sequencing data. The CNView codebase and documentation are available from gitHub, and a description of the method is provided in our preprint manuscript, Collins et al. (2016)

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GATK-SV

GATK-SV is a structural variation discovery pipeline for Illumina short-read whole-genome sequencing (WGS) data. It is designed for use on cohorts (>100 samples), although it also supports a single-sample mode. Ryan co-led the development of the alpha version of GATK-SV, and used it to produce the gnomAD-SV reference catalog as described in Collins*, Brand*, et al., Nature (2020). GATK-SV is available... Read more about GATK-SV