1. Quality control
2. Variants annotation
GnomAD
https://gnomad.broadinstitute.org
3. Disease endpoint association analyses
REGENIE
https://anaconda.org/bioconda/regenie
1) perform whole genome regression model for individual trait predictions
2) performs variant association analyses using the approximate Firth regression
4. Definition and refinement of significant regions
5. Cross-reference with known associations
PHENOSCANNER
http://www.phenoscanner.medschl.cam.ac.uk
ACMG v3
