cio-abcd / variantinterpretation

Collaborative Interpretation-Pipeline workflow based on nf-core pipeline structure
MIT License
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Add predefined filters #29

Closed sci-kai closed 9 months ago

sci-kai commented 10 months ago

Implements custom, predefined filters

This PR adds a new feature that allows the usage of more complex filter definitions for VCF files as discussed in issue #21 .

  1. vembrane tag tags variants by specific filter criteria within the FILTER column of the VCF files. The parameter --custom_filters controls this feature. It specified a TSV file, for which an example is deposited in assets/custom_filters.tsv, that has information about filter names and their respective filter criteria. It can follow python syntax as specified for vembrane filter (see also vembrane docs). All filters specified here will be tagged in the VCF file.

  2. vembrane filter creates additional VCF file with variants filtered based on the specific filter. The parameter --used_filters controls this feature. It accepts filter names present in the FILTER column of the VCF file. It will create additional VCF files with the respective FILTER subset (i.e., including all variants with the respective tag) that will be further processed downstream, generating separate TSV and HTML files. the unfiltered VCF will also be provided, i.e. this filter does not prevent the output of full VCF file reports.

Future goals: