PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records

Machine Learning in Medicine

(2019) Alvin Rajkomar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Facilitating phenotype transfer using a common data model

(2019) George Hripcsak et al.   JOURNAL OF BIOMEDICAL INFORMATICS

High-throughput multimodal automated phenotyping (MAP) with application to PheWAS

(2019) Katherine P Liao et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Enabling phenotypic big data with PheNorm

(2017) Sheng Yu et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

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

(2017) Wei-Qi Wei et al.   PLoS One

Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods

(2016) Rachel L. Richesson et al.   ARTIFICIAL INTELLIGENCE IN MEDICINE

Surrogate-assisted feature extraction for high-throughput phenotyping

(2016) Sheng Yu et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

(2016) Jacqueline C Kirby et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Learning statistical models of phenotypes using noisy labeled training data

(2016) Vibhu Agarwal et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Electronic medical record phenotyping using the anchor and learn framework

(2016) Yoni Halpern et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Technical and Policy Approaches to Balancing Patient Privacy and Data Sharing in Clinical and Translational Research

(2016) Bradley Malin et al.   JOURNAL OF INVESTIGATIVE MEDICINE

Feasibility and utility of applications of the common data model to multiple, disparate observational health databases

(2015) Erica A Voss et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources

(2015) Sheng Yu et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Combining billing codes, clinical notes, and medications from electronic health records provides superior phenotyping performance

(2015) Wei-Qi Wei et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

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

(2015) Wei-Qi Wei et al.   Genome Medicine

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

LabeledIn: Cataloging labeled indications for human drugs

(2014) Ritu Khare et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Identifying plausible adverse drug reactions using knowledge extracted from the literature

(2014) Ning Shang et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Assessing the role of a medication-indication resource in the treatment relation extraction from clinical text

(2014) C. A. Bejan et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias

(2014) Gary W. Beecham et al.   PLoS Genetics

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

(2014) Robert M. Cronin et al.   Frontiers in Genetics

Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk

(2013) Marylyn D. Ritchie et al.   CIRCULATION

The Electronic Medical Records and Genomics (eMERGE) Network: past, present and future

(2013) Omri Gottesman et al.   GENETICS IN MEDICINE

Development and evaluation of an ensemble resource linking medications to their indications

(2013) Wei-Qi Wei et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Electronic health records-driven phenotyping: challenges, recent advances, and perspectives

(2013) Jyotishman Pathak et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

(2013) K. M. Newton et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy

(2013) Chia-Chen Liu et al.   Nature Reviews Neurology

Impact of data fragmentation across healthcare centers on the accuracy of a high-throughput clinical phenotyping algorithm for specifying subjects with type 2 diabetes mellitus

(2012) Wei-Qi Wei et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

(2012)   NATURE GENETICS

Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci

(2012) Nicholas Eriksson et al.   PLoS One

Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies

(2011) Joshua C. Denny et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Abel N Kho et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Using electronic health records to drive discovery in disease genomics

(2011) Isaac S. Kohane   NATURE REVIEWS GENETICS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Regional Variations in Diagnostic Practices

(2010) Yunjie Song et al.   NEW ENGLAND JOURNAL OF MEDICINE

Common disorders are quantitative traits

(2009) Robert Plomin et al.   NATURE REVIEWS GENETICS

Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine

(2008) DM Roden et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

HLA DR-DQ Haplotypes and Genotypes and Type 1 Diabetes Risk: Analysis of the Type 1 Diabetes Genetics Consortium Families

(2008) H. Erlich et al.   DIABETES

Common Variation in the FTO Gene Alters Diabetes-Related Metabolic Traits to the Extent Expected Given Its Effect on BMI

(2008) R. M. Freathy et al.   DIABETES