Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Biobanks of linked clinical patient histories and biological samples are an efficient strategy
to generate large cohorts for modern genetics research. Biobank recruitment varies by …

Inference of clinical phenotypes is a fundamental task in precision medicine, and has
therefore been heavily investigated in recent years in the context of electronic health records …

An individual's disease risk is affected by the populations that they belong to, due to shared
genetics and environmental factors. The study of fine-scale populations in clinical care is …

An individual's disease risk is affected by the populations that they belong to, due to shared
genetics and shared environment. The study of fine-scale populations in clinical care will be …

Congenital heart disease (CHD) is a rare structural defect that occurs in∼ 1% of live births.
Studies on CHD genetic architecture have identified pathogenic single-gene mutations in …

Biobanks often contain several phenotypes relevant to a given disorder, and researchers
face complex tradeoffs between shallow phenotypes (high sample size, low specificity and …

The biobank era of genomics has ushered in a multitude of opportunities for precision
medicine research. In particular, biobanks connected to electronic health records (EHR) …

Genome-wide association studies (GWAS) have led to the identification of thousands of
associations between genetic polymorphisms and complex traits or diseases, facilitating …