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Adam English edited this page Jan 8, 2023 · 29 revisions

The wiki holds documentation most relevant for develop. For information on a specific version of Truvari, see docs/

Citation:
English, A.C., Menon, V.K., Gibbs, R.A. et al. Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol 23, 271 (2022). https://doi.org/10.1186/s13059-022-02840-6

Before you start

VCFs aren't always created with a strong adherence to the format's specification.

Truvari expects input VCFs to be valid so that it will only output valid VCFs.

We've developed a separate tool that runs multiple validation programs and standard VCF parsing libraries in order to validate a VCF.

Run this program over any VCFs that are giving Truvari trouble.

Furthermore, Truvari expects 'resolved' SVs (e.g. DEL/INS) and will not interpret BND signals across SVTYPEs (e.g. combining two BND lines to match a DEL call). A brief description of Truvari bench methodology is linked below.

Index

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