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Article
Open AccessProjecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms
Genes act in concert with each other in specific contexts to perform their functions. Determining how these genes influence complex traits requires a mechanistic understanding of expression regulation across d...
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Article
Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous disease
Varicose veins represent a common cause of cardiovascular morbidity, with limited available medical therapies. Although varicose veins are heritable and epidemiologic studies have identified several candidate ...
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Article
Open AccessEvaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population
Pharmacogenomics (PGx) aims to utilize a patient’s genetic data to enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines...
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Article
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults
While newborns and children with hearing loss are routinely offered genetic testing, adults are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic testing in childre...
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Article
Open AccessCollective feature selection to identify crucial epistatic variants
Machine learning methods have gained popularity and practicality in identifying linear and non-linear effects of variants associated with complex disease/traits. Detection of epistatic interactions still remai...
