DISCOVAR is a new variant caller and DISCOVAR de novo a new genome assembler, both designed for state-of-the-art data. Their inputs are chosen to optimize quality while keeping costs low. Currently it takes as input Illumina reads of length 250 or longer — produced on MiSeq or HiSeq 2500 — and from a single PCR-free library. These data enable a level of completeness and continuity that was not previously possible.

DISCOVAR can call variants on a region by region basis, potentially tiling an entire large genome. DISCOVAR variant calling is under active development and transitioning to VCF.

DISCOVAR de novo can generate de novo assemblies for both large and small genomes. It currently does not call variants.

For further information please see the FAQ

This work has been funded by the National Human Genome Research Institute and National Institute of Allergy and Infectious Diseases.

If you have any trouble building or using DISCOVAR or DISCOVAR de novo then please follow the steps in our help section.

- DISCOVAR banner and logo designed by Susanna M. Hamilton, Broad Communications.