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 …

Rapid identification of familial hypercholesterolemia from electronic health records: the SEARCH study

MS Safarova, H Liu, IJ Kullo - Journal of clinical lipidology, 2016 - Elsevier
Background Little is known about prevalence, awareness, and control of familial
hypercholesterolemia (FH) in the United States. Objective To address these knowledge …

Electronic health record based algorithm to identify patients with autism spectrum disorder

T Lingren, P Chen, J Bochenek, F Doshi-Velez… - PloS one, 2016 - journals.plos.org
Objective Cohort selection is challenging for large-scale electronic health record (EHR)
analyses, as International Classification of Diseases 9th edition (ICD-9) diagnostic codes …

Developing an algorithm to detect early childhood obesity in two tertiary pediatric medical centers

T Lingren, V Thaker, C Brady, B Namjou… - Applied clinical …, 2016 - thieme-connect.com
The objective of this study is to develop an algorithm to accurately identify children with
severe early onset childhood obesity (ages 1–5.99 years) using structured and unstructured …

[HTML][HTML] A quantitative and qualitative evaluation of sentence boundary detection for the clinical domain

D Griffis, C Shivade, E Fosler-Lussier… - AMIA summits on …, 2016 - ncbi.nlm.nih.gov
Sentence boundary detection (SBD) is a critical preprocessing task for many natural
language processing (NLP) applications. However, there has been little work on evaluating …

Extracting a stroke phenotype risk factor from Veteran Health Administration clinical reports: an information content analysis

DL Mowery, BE Chapman, M Conway… - Journal of Biomedical …, 2016 - Springer
Abstract Background In the United States, 795,000 people suffer strokes each year; 10–15%
of these strokes can be attributed to stenosis caused by plaque in the carotid artery, a major …

Identifying peripheral arterial disease cases using natural language processing of clinical notes

N Afzal, S Sohn, S Abram, H Liu, IJ Kullo… - 2016 IEEE-EMBS …, 2016 - ieeexplore.ieee.org
Peripheral arterial disease (PAD) is a chronic disease that affects millions of people
worldwide. Ascertaining PAD status from clinical notes by manual chart review is labor …

Natural language processing: applications in pediatric research

G Savova, J Pestian, B Connolly, T Miller, Y Ni… - … Applications in Pediatric …, 2016 - Springer
We discuss specific biomedical Natural Language Processing-based applications that cover
a wide spectrum of use cases within the field of translational and health services research. In …

A multi-locus genetic risk score for abdominal aortic aneurysm

Z Ye, E Austin, DJ Schaid, IJ Kullo - Atherosclerosis, 2016 - Elsevier
Background We investigated whether a multi-locus genetic risk scores (GRS) was
associated with presence and progression of abdominal aortic aneurysm (AAA) in a case …

Burden estimates, post-diagnosis care, and outcomes associated with peripheral artery disease in the atherosclerosis risk in communities study

CA Kalbaugh - 2016 - search.proquest.com
Peripheral artery disease (PAD) is a progressive atherosclerotic disorder of the lower
extremities that causes adverse individual-and health care system-level consequences as …