Inter-individual variability in drug response, be it efficacy or safety, is common and likely to
become an increasing problem globally given the growing elderly population requiring …

Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …

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

Objective To compare three groupings of Electronic Health Record (EHR) billing codes for
their ability to represent clinically meaningful phenotypes and to replicate known genetic …

With the widespread adoption of electronic health records (EHRs), large repositories of
structured and unstructured patient data are becoming available to conduct observational …

Monitoring and modeling biomedical, health care and wellness data from individuals and
converging data on a population scale have tremendous potential to improve understanding …

Background Rare genetic variants cause pulmonary arterial hypertension, but the
contribution of common genetic variation to disease risk and natural history is poorly …

Beginning in the early 2000s, the accumulation of biospecimens linked to electronic health
records (EHRs) made possible genome-phenome studies (ie, comparative analyses of …

Background Cutaneous squamous cell carcinoma (cSCC) occurs with higher frequency and
recurrence rates, increased morbidity and mortality, and more aggressive metastasis in …

The convergence of two rapidly developing technologies-high-throughput genotyping and
electronic health records (EHRs)-gives scientists an unprecedented opportunity to utilize …