Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

(2020) Wei Zhou et al.   NATURE GENETICS

sureLDA: A multidisease automated phenotyping method for the electronic health record

(2020) Yuri Ahuja et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Cauchy combination test: a powerful test with analytic p-value calculation under arbitrary dependency structures

(2019) Yaowu Liu et al.   JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION

Genomic Reorganization of Lamin-Associated Domains in Cardiac Myocytes is Associated with Differential Gene Expression and DNA Methylation in Human Dilated Cardiomyopathy

(2019) Sirisha Marreddy Cheedipudi et al.   CIRCULATION RESEARCH

Personalized Medicine and the Power of Electronic Health Records

(2019) Noura S. Abul-Husn et al.   CELL

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

(2019) Amit V. Khera et al.   CELL

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

(2019) Hana Zouk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy

(2019) Giovanni Peretto et al.   ANNALS OF INTERNAL MEDICINE

Electronic health records: the next wave of complex disease genetics

(2018) Brooke N Wolford et al.   HUMAN MOLECULAR GENETICS

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

(2018) Lisa Bastarache et al.   SCIENCE

A Geometric Perspective on the Power of Principal Component Association Tests in Multiple Phenotype Studies

(2018) Zhonghua Liu et al.   JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

(2018) Derek Klarin et al.   NATURE GENETICS

Genome-wide polygenic risk predictors for kidney disease

(2018) Lili Liu et al.   Nature Reviews Nephrology

Enabling phenotypic big data with PheNorm

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

Association analyses based on false discovery rate implicate new loci for coronary artery disease

(2017) Christopher P Nelson et al.   NATURE GENETICS

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease

(2017) Pim van der Harst et al.   CIRCULATION RESEARCH

NF2 Activates Hippo Signaling and Promotes Ischemia/Reperfusion Injury in the HeartNovelty and Significance

(2016) Takahisa Matsuda et al.   CIRCULATION RESEARCH

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

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

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies

(2014) Hugues Aschard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records

(2014) Jennifer A. Sinnott et al.   HUMAN GENETICS

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

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

(2013) Omri Gottesman et al.   GENETICS IN MEDICINE

A comparison of phenotype definitions for diabetes mellitus

(2013) Rachel L Richesson 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

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of apolipoprotein A1 and B with kidney function and chronic kidney disease in two multiethnic population samples

(2012) Oemer-Necmi Goek et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Using electronic health records to drive discovery in disease genomics

(2011) Isaac S. Kohane   NATURE REVIEWS GENETICS

Principles of Human Subjects Protections Applied in an Opt-Out, De-identified Biobank

(2010) Jill Pulley et al.   CTS-Clinical and Translational Science

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Association of Cell Cycle Checkpoint 2 Variants and Kidney Function: Findings of the Family Blood Pressure Program and the Atherosclerosis Risk in Communities Study

(2009) Nora Franceschini et al.   AMERICAN JOURNAL OF HYPERTENSION

Common disorders are quantitative traits

(2009) Robert Plomin et al.   NATURE REVIEWS GENETICS