Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases
We meta-analyze rare bi-allelic coding variation in approximately 1 million individuals across six biobanks, identifying 17 recessive gene-trait associations, including HBB with heart failure and LECT2 with reduced height. Incorporating compound-heterozygous genotypes via statistical phasing increases the number of bi-allelic damaging genotypes by 19%, boosting discovery power.