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

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a life-threatening,
immunologically mediated, and usually drug-induced disease with a high burden to …

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 …

In secondary analysis of electronic health records, a crucial task consists in correctly
identifying the patient cohort under investigation. In many cases, the most valuable and …

Background Genotypic information produced from single nucleotide polymorphism (SNP)
arrays has routinely been used to identify genomic regions associated with complex traits in …

The prevalence of diabetes worldwide has been steadily increasing over the past 20 years.
In 1997 it was estimated to be 124 million, 1 in 2015 it was estimated to be 415 million …

Abstract The Electronic Medical Records and Genomics (eMERGE) network is a network of
medical centers with electronic medical records linked to existing biorepository samples for …

In candidate gene era, dozens of single-nucleotide polymorphisms (SNPs) within renin–
angiotensin–aldosterone system (RAAS) have been reported to be significantly associated …

Researchers have long been presented with the challenge imposed by the role of genetic
heterogeneity in drug response. For many years, Pharmacogenomics and …

Genome-wide association studies (GWAS) and phenomewide association studies
(PheWAS) have provided powerful methods for investigating the impact of genetic variation …