Structural variant calling from whole genome sequencing data.

What is it about?

TIDDIT supplies fast and accurate calling of structural variants from paired short read sequencing data, with shorter (Paired End) or longer insert sizes. It offers high sensitivity, but through the accompanying variant clustering database tool SVDB, also does not sacrifice specificity. Finds both copy number deviations and copy number neutral events such as inversions and translocations.

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Why is it important?

Structural variation is an under-appreciated form of human variation, especially balanced aberrations. SVs can and do cause genetic disorders, explaining perhaps 5-15% of hereditary disease, depending on the cohort. When whole genome sequencing is applied to a case, short nucleotide variants (SNVs, MNVs) are found explaining some 20-50% of cases. Using the software published here - the structural variant caller TIDDIT and the database tool SVDB - a reasonable number of structural variants per case are detected and can be triaged for genetic impact.