Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes
Remo Monti, Pia Rautenstrauch, Mahsa Ghanbari…·Christoph Lippert
The paper performs a rare variant association study of 30 blood biomarkers in 191,971 UK Biobank individuals, identifying 193 gene-biomarker associations using functionally informed kernel-based tests.