GeneticsThe American Journal of Human GeneticsPeer-reviewed
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Andrea Ganna, F. Kyle Satterstrom, Seyedeh Maryam Zekavat…·Benjamin M. Neale
The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.
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