Alphamissense annotation for hg38

ccmbioinfo / crg2

Research pipeline for exploring clinically relevant genomic variants

Apache License 2.0

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Open anjalijain22 opened 4 months ago

anjalijain22 commented 4 months ago

For testing, please checkout crg2 branch "crg2-hg38-alphamissense" branch and cre branch "hg38-alphamissense"
Tested pipeline on one genome from Mital Lab and Alphamissense annotation column was successfully added to the report (wes.regular) as well as the annotated VCF file.