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LiuzLab / AI_MARRVEL

AI-MARRVEL (AIM) is an AI system for rare genetic disorder diagnosis
GNU General Public License v3.0
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Filter VCFs to Exonic Regions Only in Preprocessing Steps #34

Closed jylee-bcm closed 2 months ago

jylee-bcm commented 2 months ago

NOTE: Currently waiting for data dependency setup. (Sasi is working on it)

To prevent it from running more than days with the input vcf of WGS (Whole Genome Sequence), this changes filter to exonic regions only, based on the BED file generated with UCSC genome browser, by merging all exome probeset tracks (union function) (Mohammed provided)

This change ensures the pipeline can process within 30 minutes with the user's input of WGS.

jylee-bcm commented 2 months ago

This work will be done only in the Nextflow branch