Genetic & Genomic MedicineNaturePeer-reviewed
Genetic associations of protein-coding variants in human disease
Benjamin B. Sun, Mitja Kurki, Christopher N. Foley…·Mark J. Daly
This study combines sequencing and genotyping data from two biobanks to identify 975 protein-coding variant associations across 744 disease endpoints, enhancing understanding of genetic disease mechanisms and drug targets.
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