genome-nexus / genome-nexus-annotation-pipeline

Library and tool for annotating MAF files using Genome Nexus Webserver API
MIT License
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Handling Intergenic Variants in the MAF: Annotation Pipeline doesn't fill out any columns when VEP returns no transcript #274

Open rmadupuri opened 4 months ago

rmadupuri commented 4 months ago

When VEP doesnt return any transcript info (for intergenic variants), the annotation pipeline doesnt fill out any columns. For example, https://www.genomenexus.org/annotation/2%3Ag.159740254C%3EA?fields=annotation_summary is an intergenic variant and this would get imported as MUTATED into the database although this is an intergenic event and should be filtered out. Importer uses Variant_Classification column to filter out the variants.

Solution: Would be ideal to use the "most_severe_consequence" to update the Consequence (intergenic_variant) and Variant_Classification (IGR) coulumns so these would be filtered out during import.

More examples: error.txt