11 Result(s)
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Daniel M Jordan
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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...
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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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Open AccessA machine learning model identifies patients in need of autoimmune disease testing using electronic health records
Systemic autoimmune rheumatic diseases (SARDs) can lead to irreversible damage if left untreated, yet these patients often endure long diagnostic journeys before being diagnosed and treated. Machine learning m...
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Open AccessA tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank
Phenome-wide association studies identified numerous loci associated with traits and diseases. To help interpret these associations, we constructed a phenome-wide network map of colocalized genes and phenotype...
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Open AccessExploiting the GTEx resources to decipher the mechanisms at GWAS loci
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic conseq...
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Open AccessAn integrative multiomic network model links lipid metabolism to glucose regulation in coronary artery disease
Elevated plasma cholesterol and type 2 diabetes (T2D) are associated with coronary artery disease (CAD). Individuals treated with cholesterol-lowering statins have increased T2D risk, while individuals with hy...
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Open AccessHOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases
Horizontal pleiotropy, where one variant has independent effects on multiple traits, is important for our understanding of the genetic architecture of human phenotypes. We develop a method to quantify horizont...
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Open AccessQuantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
Understanding the role of rare variants is important in elucidating the genetic basis of human disease. Negative selection can cause rare variants to have larger per-allele effect sizes than common variants. H...
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Reply to ‘Selective effects of heterozygous protein-truncating variants’
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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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Identification of cis-suppression of human disease mutations by comparative genomics
Patterns of amino acid conservation have been used to guide the interpretation of the disease-causing potential of genetic variants in patients; now, an appreciable fraction of pathogenic alleles are shown to ...
