Chapter 11: Genome-wide association studies

WS Bush, JH Moore - PLoS computational biology, 2012 - journals.plos.org
Genome-wide association studies (GWAS) have evolved over the last ten years into a
powerful tool for investigating the genetic architecture of human disease. In this work, we …

Genetics of peripheral artery disease

NJ Leeper, IJ Kullo, JP Cooke - Circulation, 2012 - Am Heart Assoc
Broadly defined, peripheral vascular disease refers to disease of the extracardiac blood
vessels, including diseases of the arteries, veins, and lymphatics. Peripheral arterial disease …

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

AN Kho, MG Hayes, L Rasmussen-Torvik… - Journal of the …, 2012 - academic.oup.com
Objective: Genome-wide association studies (GWAS) require high specificity and large
numbers of subjects to identify genotype–phenotype correlations accurately. The aim of this …

[HTML][HTML] Building a robust, scalable and standards-driven infrastructure for secondary use of EHR data: the SHARPn project

S Rea, J Pathak, G Savova, TA Oniki… - Journal of biomedical …, 2012 - Elsevier
The Strategic Health IT Advanced Research Projects (SHARP) Program, established by the
Office of the National Coordinator for Health Information Technology in 2010 supports …

Portability of an algorithm to identify rheumatoid arthritis in electronic health records

RJ Carroll, WK Thompson, AE Eyler… - Journal of the …, 2012 - academic.oup.com
Objectives Electronic health records (EHR) can allow for the generation of large cohorts of
individuals with given diseases for clinical and genomic research. A rate-limiting step is the …

Importance of multi-modal approaches to effectively identify cataract cases from electronic health records

PL Peissig, LV Rasmussen, RL Berg… - Journal of the …, 2012 - academic.oup.com
Objective: There is increasing interest in using electronic health records (EHRs) to identify
subjects for genomic association studies, due in part to the availability of large amounts of …

Survival in patients with poorly compressible leg arteries

FA Arain, Z Ye, KR Bailey, Q Chen, G Liu… - Journal of the American …, 2012 - jacc.org
Objectives: This study sought to compare survival of patients with poorly compressible
arteries (PCA) to those with a normal ankle-brachial index (ABI) and those with peripheral …

[HTML][HTML] Dependency parser-based negation detection in clinical narratives

S Sohn, S Wu, CG Chute - AMIA Summits on Translational Science …, 2012 - ncbi.nlm.nih.gov
Negation of clinical named entities is common in clinical documents and is a crucial factor to
accurately compile patients' clinical conditions and to further support complex phenotype …

High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant in APOE

LJ Rasmussen‐Torvik, JA Pacheco… - Clinical and …, 2012 - Wiley Online Library
Only one low‐density lipoprotein cholesterol (LDL‐C) genome‐wide association study
(GWAS) has been previously reported in‐African Americans. We performed a GWAS of LDL …

Mining the pharmacogenomics literature—a survey of the state of the art

U Hahn, KB Cohen, Y Garten… - Briefings in …, 2012 - academic.oup.com
This article surveys efforts on text mining of the pharmacogenomics literature, mainly from
the period 2008 to 2011. Pharmacogenomics (or pharmacogenetics) is the field that studies …