What it does
Delly is an integrated structural variant (SV) prediction method that can discover, genotype and visualize deletions, tandem duplications, inversions and translocations at single-nucleotide resolution in short-read massively parallel sequencing data. It uses paired-ends, split-reads and read-depth to sensitively and accurately delineate genomic rearrangements throughout the genome.
Short-read SV calling
Long-read SV calling
Copy-number variant calling
Delly classify for somatic or germline copy-number variants.
Input
Delly classify requires an input file in BCF format that can be generated with e.g. Delly merge. Additionally a tab-delimited sample description file is required where the first column is the sample id (as in the VCF/BCF file) and the second column is either tumor or control.
Output
The output is available in BCF and VCF format. Additionally a log file is provided.
References
More information are available on GitHub.