paperKB
coga / coga-kb
Help
Sign in

Chunk #38 — Methods — Additional quality control

Source
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Embedded
yes

Text

To complement the quality control performed by Regeneron Pharmaceuticals, we passed the 302,355 sequences through our internal bioinformatics pipeline. In addition to what had already been flagged for quality control, we excluded from our analyses 106 (0.035%) sequences that achieved a VerifyBAMID freemix (contamination) level of more than 4%51, and an additional five sequences (0.002%) where less than 94.5% of the consensus coding sequence (CCDS release 22) achieved a minimum of tenfold read depth52.