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David A. Parry edited this page Jun 23, 2020
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VASE stands for Variant Annotation, Segregation and Exclusion. It provides a program to filter and annotate variant data (in VCF/BCF format) according to user-specified criteria. Example use cases include:
- Annotating/filtering variants on frequency data from public databases (e.g. gnomAD, dbSNP)
- Selecting variants based on VEP consequence annotations
- Filtering variants based on presence in cases vs control samples
- Filtering variants based on familial segregation/inheritance patterns
- Filtering variants/genotypes based on depth data and quality metrics
For installation instructions see the README