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Estimating the selective effects of heterozygous protein-truncating variants from human exome data
Shamil Sunyaev, David Beier and colleagues report an analysis of the fitness effects of heterozygous protein-truncating variants from the Exome Aggregation Consortium. They find that high heterozygous selectio...
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Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications
Studies have shown that drug targets with human genetic support are more likely to succeed in clinical trials. Hence, a tool integrating genetic evidence to prioritize drug target genes is beneficial for drug ...
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Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in...