Unravelling the human genome–phenome relationship using phenome-wide association studies

WS Bush, MT Oetjens, DC Crawford - Nature Reviews Genetics, 2016 - nature.com
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 …

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 …

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

W Zhou, JB Nielsen, LG Fritsche, R Dey… - Nature …, 2018 - nature.com
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 …

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

WQ Wei, LA Bastarache, RJ Carroll, JE Marlo… - PloS one, 2017 - journals.plos.org
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 …

Recent genetics and epigenetics approaches to PTSD

NP Daskalakis, CM Rijal, C King, LM Huckins… - Current psychiatry …, 2018 - Springer
Abstract Purpose of Review Following a life-threatening traumatic exposure, about 10% of
those exposed are at considerable risk for developing posttraumatic stress disorder (PTSD) …

Extracting research-quality phenotypes from electronic health records to support precision medicine

WQ Wei, JC Denny - Genome medicine, 2015 - Springer
The convergence of two rapidly developing technologies-high-throughput genotyping and
electronic health records (EHRs)-gives scientists an unprecedented opportunity to utilize …

Type 2 inflammation in eosinophilic esophagitis: from pathophysiology to therapeutic targets

F Racca, G Pellegatta, G Cataldo, E Vespa… - Frontiers in …, 2022 - frontiersin.org
Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease of the esophagus
characterized clinically by symptoms related to esophageal dysfunction and histologically by …

[HTML][HTML] A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse

N Garcelon, A Neuraz, R Salomon, H Faour… - Journal of biomedical …, 2018 - Elsevier
Introduction Clinical data warehouses are often oriented toward integration and exploration
of coded data. However narrative reports are of crucial importance for translational research …

Phenotypic characterization of eosinophilic esophagitis in a large multicenter patient population from the consortium for food allergy research

M Chehade, SM Jones, RD Pesek, AW Burks… - The Journal of Allergy …, 2018 - Elsevier
Background Eosinophilic esophagitis (EoE) is increasingly common, but data on phenotypic
aspects are still incomplete. Objectives To describe the clinical, endoscopic, and …

Breaking down the complex pathophysiology of eosinophilic esophagitis

B Underwood, TD Troutman, JT Schwartz - Annals of Allergy, Asthma & …, 2023 - Elsevier
Eosinophilic esophagitis (EoE) is a chronic and progressive immune-mediated disease of
the esophagus associated with antigen-driven type 2 inflammation and symptoms of …