Informatics and machine learning to define the phenotype

Cluster Analysis to Identify Possible Subgroups in Tinnitus Patients

(2017) Minke J. C. van den Berge et al.   Frontiers in Neurology

Novel subgroups of attention-deficit/hyperactivity disorder identified by topological data analysis and their functional network modular organizations

(2017) Sunghyon Kyeong et al.   PLoS One

Imputing Phenotypes for Genome-wide Association Studies

(2016) Farhad Hormozdiari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

(2016) David J. Carey et al.   GENETICS IN MEDICINE

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

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

Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases

(2016) Anurag Verma et al.   PLoS One

Detection of temporal lobe epilepsy using support vector machines in multi-parametric quantitative MR imaging

(2015) Diego Cantor-Rivera et al.   COMPUTERIZED MEDICAL IMAGING AND GRAPHICS

The rise of “big data” on cloud computing: Review and open research issues

(2015) Ibrahim Abaker Targio Hashem et al.   INFORMATION SYSTEMS

Who are the obese? A cluster analysis exploring subgroups of the obese

(2015) M.A. Green et al.   JOURNAL OF PUBLIC HEALTH

Methods of integrating data to uncover genotype–phenotype interactions

(2015) Marylyn D. Ritchie et al.   NATURE REVIEWS GENETICS

Identification of type 2 diabetes subgroups through topological analysis of patient similarity

(2015) Li Li et al.   Science Translational Medicine

Development of phenotype algorithms using electronic medical records and incorporating natural language processing

(2015) K. P. Liao et al.   BMJ-British Medical Journal

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Development of phenotype algorithms using electronic medical records and incorporating natural language processing

(2015) K. P. Liao et al.   BMJ-British Medical Journal

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Clinical Phenotypes Using Cluster Analyses in COPD Patients with Multiple Comorbidities

(2014) Pierre-Régis Burgel et al.   Biomed Research International

Subphenotypes of Mild-to-Moderate COPD by Factor and Cluster Analysis of Pulmonary Function, CT Imaging and Breathomics in a Population-Based Survey

(2013) Niki Fens et al.   COPD-Journal of Chronic Obstructive Pulmonary Disease

Improving Case Definition of Crohnʼs Disease and Ulcerative Colitis in Electronic Medical Records Using Natural Language Processing

(2013) Ashwin N. Ananthakrishnan et al.   INFLAMMATORY BOWEL DISEASES

Using electronic health records data to assess comorbidities of substance use and psychiatric diagnoses and treatment settings among adults

(2013) Li-Tzy Wu et al.   JOURNAL OF PSYCHIATRIC RESEARCH

A comparison of phenotype definitions for diabetes mellitus

(2013) Rachel L Richesson 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

Caveats for the Use of Operational Electronic Health Record Data in Comparative Effectiveness Research

(2013) William R. Hersh et al.   MEDICAL CARE

Rare-variant genome-wide association studies: a new frontier in genetic analysis of complex traits

(2013) Michael J Wagner   PHARMACOGENOMICS

Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups

(2013) Elisa Docampo et al.   PLoS One

Extracting insights from the shape of complex data using topology

(2013) P. Y. Lum et al.   Scientific Reports

Exome sequencing and complex disease: practical aspects of rare variant association studies

(2012) R. Do et al.   HUMAN MOLECULAR GENETICS

Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach

(2012) Stelios Georgiades et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Methods and dimensions of electronic health record data quality assessment: enabling reuse for clinical research

(2012) N. G. Weiskopf et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Cluster Analysis of Obesity and Asthma Phenotypes

(2012) E. Rand Sutherland et al.   PLoS One

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

(2011) Catherine A McCarty et al.   BMC Medical Genomics

Validation of diabetes mellitus and hypertension diagnosis in computerized medical records in primary health care

(2011) Carmen de Burgos-Lunar et al.   BMC Medical Research Methodology

Topology based data analysis identifies a subgroup of breast cancers with a unique mutational profile and excellent survival

(2011) M. Nicolau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Using electronic medical records to enable large-scale studies in psychiatry: treatment resistant depression as a model

(2011) R. H. Perlis et al.   PSYCHOLOGICAL MEDICINE

Clinical COPD phenotypes: a novel approach using principal component and cluster analyses

(2010) P.-R. Burgel et al.   EUROPEAN RESPIRATORY JOURNAL

Isomap Approach to EEG-Based Assessment of Neurophysiological Changes During Anesthesia

(2010) Jukka Kortelainen et al.   IEEE TRANSACTIONS ON NEURAL SYSTEMS AND REHABILITATION ENGINEERING

An analytical approach to characterize morbidity profile dissimilarity between distinct cohorts using electronic medical records

(2010) Jonathan S. Schildcrout et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Electronic medical records for discovery research in rheumatoid arthritis

(2010) Katherine P. Liao et al.   ARTHRITIS CARE & RESEARCH

Topology and data

(2009) Gunnar Carlsson   BULLETIN OF THE AMERICAN MATHEMATICAL SOCIETY

When a Case Is Not a Case: Effects of Phenotype Misclassification on Power and Sample Size Requirements for the Transmission Disequilibrium Test with Affected Child Trios

(2009) Steven Buyske et al.   HUMAN HEREDITY

Explorative data analysis techniques and unsupervised clustering methods to support clinical assessment of Chronic Obstructive Pulmonary Disease (COPD) phenotypes

(2009) Matteo Paoletti et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Using Electronic Health Records to Measure Physician Performance for Acute Conditions in Primary Care

(2009) Jeffrey A. Linder et al.   MEDICAL CARE

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Validity of The Health Improvement Network (THIN) for epidemiologic studies of hepatitis C virus infection

(2009) Vincent Lo Re et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

Positive predictive value of computerized medical records for uncomplicated and complicated upper gastrointestinal ulcer

(2009) Andrea V. Margulis et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

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

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

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE