Unravelling the human genome–phenome relationship using phenome-wide association studies
Advances in genotyping technology have, over the past decade, enabled the focused
search for common genetic variation associated with human diseases and traits. With the …
search for common genetic variation associated with human diseases and traits. With the …
Phenome-wide association studies as a tool to advance precision medicine
JC Denny, L Bastarache… - Annual review of genomics …, 2016 - annualreviews.org
Beginning in the early 2000s, the accumulation of biospecimens linked to electronic health
records (EHRs) made possible genome-phenome studies (ie, comparative analyses of …
records (EHRs) made possible genome-phenome studies (ie, comparative analyses of …
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
In genome-wide association studies (GWAS) for thousands of phenotypes in large biobanks,
most binary traits have substantially fewer cases than controls. Both of the widely used …
most binary traits have substantially fewer cases than controls. Both of the widely used …
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Genetic association studies often examine features independently, potentially missing
subpopulations with multiple phenotypes that share a single cause. We describe an …
subpopulations with multiple phenotypes that share a single cause. We describe an …
[HTML][HTML] A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse
Introduction Clinical data warehouses are often oriented toward integration and exploration
of coded data. However narrative reports are of crucial importance for translational research …
of coded data. However narrative reports are of crucial importance for translational research …
SemEHR: A general-purpose semantic search system to surface semantic data from clinical notes for tailored care, trial recruitment, and clinical research
Objective Unlocking the data contained within both structured and unstructured components
of electronic health records (EHRs) has the potential to provide a step change in data …
of electronic health records (EHRs) has the potential to provide a step change in data …
Electronic health records for the diagnosis of rare diseases
With the emergence of electronic health records, the reuse of clinical data offers new
perspectives for the diagnosis and management of patients with rare diseases. However …
perspectives for the diagnosis and management of patients with rare diseases. However …
Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals
Objective: Phenotyping algorithms applied to electronic health record (EHR) data enable
investigators to identify large cohorts for clinical and genomic research. Algorithm …
investigators to identify large cohorts for clinical and genomic research. Algorithm …
PheWAS and beyond: the landscape of associations with medical diagnoses and clinical measures across 38,662 individuals from Geisinger
Most phenome-wide association studies (PheWASs) to date have used a small to moderate
number of SNPs for association with phenotypic data. We performed a large-scale single …
number of SNPs for association with phenotypic data. We performed a large-scale single …
Genome‐wide and phenome‐wide approaches to understand variable drug actions in electronic health records
Genome-wide association studies (GWAS) and phenomewide association studies
(PheWAS) have provided powerful methods for investigating the impact of genetic variation …
(PheWAS) have provided powerful methods for investigating the impact of genetic variation …