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List of works by Marylyn D. Ritchie

A Balanced Accuracy Fitness Function Leads to Robust Analysis using Grammatical Evolution Neural Networks in the Case of Class Imbalance

A GWAS Study on Liver Function Test Using eMERGE Network Participants

scientific article published on 28 September 2015

A Graph-Based Integration of Multimodal Brain Imaging Data for the Detection of Early Mild Cognitive Impairment (E-MCI)

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies

scientific article published on 9 January 2020

A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction.

scientific article

A biologically informed method for detecting rare variant associations

scientific article published on 30 August 2016

A comparison of analytical methods for genetic association studies

scientific article published in December 2008

A comparison of analytical methods for genetic association studies

A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data

scientific article

A cross-validation procedure for general pedigrees and matched odds ratio fitness metric implemented for the multifactor dimensionality reduction pedigree disequilibrium test

scientific article published on February 2010

A general framework for formal tests of interaction after exhaustive search methods with applications to MDR and MDR-PDT.

scientific article

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

scientific article published on 12 September 2013

A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

scientific article published on 06 August 2019

A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough

scientific article

A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose

scientific article published on 5 June 2008

A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility.

scientific article published on 24 February 2011

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

scientific article published on 18 November 2011

A novel method to identify gene-gene effects in nuclear families: the MDR-PDT.

scientific article

A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans

scientific article published on 31 December 2019

A phenome-wide association study to discover pleiotropic effects of , , and

A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains

scientific article

A simulation study investigating power estimates in phenome-wide association studies.

scientific article

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

scientific article published in Nature Communications

A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study.

scientific article

ABCB1 and GST polymorphisms associated with TP53 status in breast cancer

article published in 2007

ATHENA: A knowledge-based hybrid backpropagation-grammatical evolution neural network algorithm for discovering epistasis among quantitative trait Loci ⬇️

scientific article published on September 27, 2010

ATHENA: Identifying interactions between different levels of genomic data associated with cancer clinical outcomes using grammatical evolution neural network

scientific article

ATHENA: a tool for meta-dimensional analysis applied to genotypes and gene expression data to predict HDL cholesterol levels ⬇️

scientific article published on January 1, 2013

ATHENA: the analysis tool for heritable and environmental network associations

scientific article published on 21 October 2013

Actomyosin kinetics and in vitro motility of wild-type Drosophila actin and the effects of two mutations in the Act88F gene.

scientific article

Admixture mapping and subsequent fine-mapping suggests a biologically relevant and novel association on chromosome 11 for type 2 diabetes in African Americans

scientific article

African mitochondrial DNA subhaplogroups and peripheral neuropathy during antiretroviral therapy

scientific article

Alternative Cross-Over Strategies and Selection Techniques for Grammatical Evolution Optimized Neural Networks

Alternative contingency table measures improve the power and detection of multifactor dimensionality reduction

scientific article

An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: the importance of model validation

scientific article

An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

scientific article

Analysis pipeline for the epistasis search - statistical versus biological filtering

scientific article

Another Round of "Clue" to Uncover the Mystery of Complex Traits

scientific article published on 25 January 2018

Application of Genetic Algorithms to the Discovery of Complex Models for Simulation Studies in Human Genetics ⬇️

scientific article published on January 1, 2002

Artificial Evolution Methods in the Biological and Biomedical Sciences

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records

scientific article

Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records

scientific article published on May 2013

Association Rule Discovery Has the Ability to Model Complex Genetic Effects

scientific article published on 01 March 2007

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

scientific article published on January 2016

Association of haplotypes of inflammation-related genes with gastric preneoplastic lesions in African Americans and Caucasians

scientific article

Association of the FTO obesity risk variant rs8050136 with percentage of energy intake from fat in multiple racial/ethnic populations: the PAGE study

scientific article published on 02 July 2013

Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry

scientific article published on 01 December 2019

Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide

scientific article published in Scientific Reports

BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN

scientific article

Basic statistics

scientific article published on August 2003

Benefits of Accurate Imputations in GWAS

Binning somatic mutations based on biological knowledge for predicting survival: an application in renal cell carcinoma

scientific article published on January 2015

BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge

scientific article

Biofilter: a knowledge-integration system for the multi-locus analysis of genome-wide association studies.

scientific article

Bioinformatics approaches for detecting gene-gene and gene-environment interactions in studies of human disease

scientific article

Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network

scientific article

Bisphosphorylation of cardiac troponin I modulates the Ca(2+)-dependent binding of myosin subfragment S1 to reconstituted thin filaments

scientific article published in April 1996

Brain neurotransmitter transporter/receptor genomics and efavirenz central nervous system adverse events

scientific article published on 01 July 2018

CLARITE Facilitates the Quality Control and Analysis Process for EWAS of Metabolic-Related Traits

scientific article published on 18 December 2019

CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease

scientific article published on 19 July 2019

COVID-19 outcomes and the human genome

scientific article published on 12 May 2020

Celebrating parasites

scientific article published on March 2017

Characterization of the Metabochip in diverse populations from the International HapMap Project in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project

scientific article published on January 2013

Characterization of the equilibrium between blocked and closed states of muscle thin filaments

scientific article

Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation

scientific article

Clinical applications of whole-genome association studies: future applications at the bedside

scientific article published on July 2006

Collective feature selection to identify crucial epistatic variants

scientific article published on 19 April 2018

Comparison of approaches for machine-learning optimization of neural networks for detecting gene-gene interactions in genetic epidemiology

scientific article published in May 2008

Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate

scientific article

Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes

article

Computational approaches for pharmacogenomics

scientific article published on 01 January 2005

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

scientific article

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study

scientific article published on 11 May 2017

Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes

scientific article published on 5 November 2015

Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records

scientific article

Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

scholarly article published in BMC Medical Genomics

Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases

scientific article

Current Scope and Challenges in Phenome-Wide Association Studies

scientific article published on 2 November 2017

Data simulation software for whole-genome association and other studies in human genetics.

scientific article

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Depression Linked to Frequent Emergency Department Use in Large 10-year Retrospective Analysis of an Integrated Health Care System

article

Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

scientific article

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network

Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study

scientific article

Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans

scientific article published in February 2006

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

scientific article published on 24 July 2017

Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium

scientific article

Discussing gene-gene interaction: warning--translating equations to English may result in jabberwocky

scientific article published in January 2007

Dissecting the obesity disease landscape: Identifying gene-gene interactions that are highly associated with body mass index

article

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

scientific article published on December 2016

Diverse convergent evidence in the genetic analysis of complex disease: coordinating omic, informatic, and experimental evidence to better identify and validate risk factors

scientific article

Drug Transporter and Metabolizing Enzyme Gene Variants and Nonnucleoside Reverse-Transcriptase Inhibitor Hepatotoxicity

article

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

scientific article published on 26 October 2017

Efavirenz Pharmacogenetics and Weight Gain following Switch to Integrase Inhibitor-containing Regimens

scientific article published on 23 August 2020

Effect of CYP2B6, ABCB1, and CYP3A5 polymorphisms on efavirenz pharmacokinetics and treatment response: an AIDS Clinical Trials Group study

scientific article

Effect of CYP3A4*22 and PPAR-α Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutaneous Coronary Intervention

scientific article published on 11 September 2020

Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study

scientific article

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

scientific article published on 4 May 2017

Electronic health records and polygenic risk scores for predicting disease risk

scientific article published on 31 March 2020

Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.

scientific article

Embracing Complex Associations in Common Traits: Critical Considerations for Precision Medicine

scientific article

Enabling high-throughput genotype-phenotype associations in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project as part of the Population Architecture using Genomics and Epidemiology (PAGE) study

scientific article (publication date: 2013)

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records

scientific article

Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank

scientific article

Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium

scientific article

Erratum to: The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era

scientific article published on 17 September 2013

Estimating the effect size of a hidden causal factor between SNPs and a continuous trait: a mediation model approach

scientific article published in 2022

Estrogens, enzyme variants, and breast cancer: a risk model

scientific article published in September 2006

European mitochondrial DNA haplogroups and metabolic changes during antiretroviral therapy in AIDS Clinical Trials Group Study A5142

scientific article

Evaluation of PrediXcan for prioritizing GWAS associations and predicting gene expression

scientific article published in January 2018

Evidence for extensive pleiotropy among pharmacogenes

scientific article published on June 2016

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

scientific article published on 07 September 2018

Expectations and challenges stemming from genome-wide association studies

scientific article published on 2 September 2008

Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies

scientific article published on 09 July 2019

Exploring epistasis in candidate genes for rheumatoid arthritis

scientific article

Exploring the performance of Multifactor Dimensionality Reduction in large scale SNP studies and in the presence of genetic heterogeneity among epistatic disease models

scientific article published on 15 December 2008

Extending Tree-Based Automated Machine Learning to Biomedical Image and Text Data Using Custom Feature Extractors

scientific article published on 24 July 2023

FAM-MDR: a flexible family-based multifactor dimensionality reduction technique to detect epistasis using related individuals

scientific article

Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin

scientific article published on July 2011

Filling the gap between biology and computer science

scientific article published on 17 July 2008

Finding the epistasis needles in the genome-wide haystack

scientific article

Finding unique filter sets in PLATO: a precursor to efficient interaction analysis in GWAS data

scientific article

Fine Mapping and Identification of BMI Loci in African Americans

scientific article published on October 2013

First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring

scientific article published on 13 December 2017

GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease

scientific article

GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network

scientific article published on 17 July 2019

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

article

Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study

scientific article

Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations

scientific article published on 21 November 2016

Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans

scientific article published on 28 March 2013

Genetic Algorithm Selection of Interacting Features (GASIF) for Selecting Biological Gene-Gene Interactions

scientific article published on 08 July 2024

Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program

scientific article published on 28 September 2020

Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits

scientific article published on May 2012

Genetic Programming Neural Networks: A Powerful Bioinformatics Tool for Human Genetics

scientific article

Genetic analysis of biological pathway data through genomic randomization

scientific article

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

scientific article published on 24 May 2017

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study

scientific article

Genetic determinants of response to warfarin during initial anticoagulation

scientific article

Genetic heterogeneity is not as threatening as you might think

scientific article published on 01 November 2007

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

scientific article published on December 2016

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genetic regulation of nonsense-mediated decay underlies association with risk of severe COVID-19

scientific article

Genetic risk factors for BMI and obesity in an ethnically diverse population: results from the population architecture using genomics and epidemiology (PAGE) study

scientific article

Genetic risk models: Influence of model size on risk estimates and precision

scientific article published on 15 February 2017

Genetic simulation tools for post-genome wide association studies of complex diseases

scientific article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema

scientific article published on September 2013

Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network

scientific article

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

scientific article published on 30 October 2011

Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study

scientific article published on 08 July 2013

Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network

scientific article

Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study

scientific article

Genetic variation associated with circulating monocyte count in the eMERGE Network

scientific article published on 12 January 2013

Genetic variation in the HLA region is associated with susceptibility to herpes zoster

scientific article

Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study

scientific article published on 29 November 2006

Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias

scientific article

Genetics of height and risk of atrial fibrillation: A Mendelian randomization study

scientific article published on 08 October 2020

Genome simulation approaches for synthesizing in silico datasets for human genomics

scientific article published on January 2010

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

scientific article (publication date: 2013)

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

scientific article published on 05 March 2013

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

scientific article published on 27 December 2017

Genome-wide analysis in 756,646 individuals provides first genetic evidence that expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical end points-Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC).

scientific article published on 17 December 2017

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

scientific article published on 11 January 2016

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants

scientific article published on December 2012

Genome-wide association study of platelet reactivity and cardiovascular response in patients treated with clopidogrel: a study by the International Clopidogrel Pharmacogenomics Consortium (ICPC)

scientific article published on 30 May 2020

Genome-wide study of resistant hypertension identified from electronic health records

scientific article

Genomewide association study of atazanavir pharmacokinetics and hyperbilirubinemia in AIDS Clinical Trials Group protocol A5202.

scientific article

Genomic analyses with biofilter 2.0: knowledge driven filtering, annotation, and model development

scientific article

Genomic architecture of pharmacological efficacy and adverse events

scientific article

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants

scientific article published on 20 June 2019

Global increases in both common and rare copy number load associated with autism

scientific article published on 27 March 2013

Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy

scientific article published on 01 July 2006

Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network

scientific article published on 15 April 2019

High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE

scientific article

How powerful are summary-based methods for identifying expression-trait associations under different genetic architectures?

scientific article published in January 2018

Human genomic association studies: a primer for the infectious diseases specialist

scientific article published on 9 May 2007

Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals

scientific article published on 29 December 2018

IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.

scientific article

INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

scientific article

Ideas for how informaticians can get involved with COVID-19 research

scientific article published on 12 May 2020

Identification of a two-loci epistatic interaction associated with susceptibility to rheumatoid arthritis through reverse engineering and multifactor dimensionality reduction

scientific article published on 4 May 2007

Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network

scientific article published on 10 May 2016

Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science

scientific article

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism

scientific article

Identification of unique venous thromboembolism-susceptibility variants in African-Americans

scientific article

Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)

scientific article

Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

scientific article

Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing

scientific article

Immunogenetics of CD4 lymphocyte count recovery during antiretroviral therapy: An AIDS Clinical Trials Group study

scientific article published on 6 September 2006

Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection

scientific article published on 17 May 2022

Imputation and quality control steps for combining multiple genome-wide datasets

scientific article

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

scientific article published on 02 March 2016

Incorporating inter-relationships between different levels of genomic data into cancer clinical outcome prediction

scientific article

Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions

scientific article published in October 2017

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

scientific article published in 2023

Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies

scientific article published on 01 January 2019

Informatics and Data Analytics to Support Exposome-Based Discovery for Public Health

scientific article (publication date: 20 March 2017)

Informatics and machine learning to define the phenotype.

scientific article published on 12 February 2018

Initialization Parameter Sweep in ATHENA: Optimizing Neural Networks for Detecting Gene-Gene Interactions in the Presence of Small Main Effects

scientific article published on 01 January 2010

Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes

Integrating Heterogeneous High-Throughput Data for Meta-Dimensional Pharmacogenomics and Disease-Related Studies ⬇️

scientific article published on January 1, 2012

Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity

scientific article published on 25 May 2018

Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia

scientific article

Interdisciplinary training to build an informatics workforce for precision medicine

scientific article published on 4 August 2015

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk

scientific article published in August 2007

KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN

scientific article published in January 2016

Kinetic characterization of a cytoplasmic myosin motor domain expressed in Dictyostelium discoideum.

scientific article published on September 1993

Knowledge boosting: a graph-based integration approach with multi-omics data and genomic knowledge for cancer clinical outcome prediction

scientific article

Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer's disease

scientific article

Knowledge-driven genomic interactions: an application in ovarian cancer

scientific article

Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks

scientific article

LD-spline: mapping SNPs on genotyping platforms to genomic regions using patterns of linkage disequilibrium

scientific article published on 3 December 2009

LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins

Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four US populations: the Population Architecture using Genomics and Epidemiology (PAGE) study

scientific article published on 13 March 2013

Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits

scientific article published on 28 July 2015

Linkage Disequilibrium in Genetic Association Studies Improves the Performance of Grammatical Evolution Neural Networks

scientific article published on 01 April 2007

List of Contributors

Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data

scientific article

Machine learning for detecting gene-gene interactions: a review

scientific article

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data

scientific article

Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis

scientific article published on 25 February 2021

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

scientific article

Meta-analysis identifies six new susceptibility loci for atrial fibrillation

scientific article published on 29 April 2012

Methods for analysis in pharmacogenomics: lessons from the Pharmacogenetics Research Network Analysis Group

scientific article published on February 2009

Methods for optimizing statistical analyses in pharmacogenomics research

scientific article published on September 2009

Methods of integrating data to uncover genotype-phenotype interactions

scientific article

Methods to analyze big data in pharmacogenomics research

scientific article

Mitochondrial DNA Haplogroups and Frailty in Adults Living with HIV

scientific article published on 14 January 2020

Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER.

scientific article published on 17 October 2012

Mitochondrial DNA variation and changes in adiponectin and endothelial function in HIV-infected adults after antiretroviral therapy initiation

scientific article published on 14 August 2013

Mitochondrial Genomics and CD4 T-Cell Count Recovery After Antiretroviral Therapy Initiation in AIDS Clinical Trials Group Study 384 ⬇️

scientific article published on December 1, 2011

Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study

scientific article published on September 2005

Model-based multifactor dimensionality reduction for detecting epistasis in case-control data in the presence of noise

scientific article

Multifactor dimensionality reduction for detecting gene-gene and gene-environment interactions in pharmacogenomics studies

scientific article

Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans

scientific article

Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions

scientific article published in February 2003

Multifactor dimensionality reduction: an analysis strategy for modelling and detecting gene-gene interactions in human genetics and pharmacogenomics studies

scientific article

Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer

scientific article

Multifactor-dimensionality reduction shows a two-locus interaction associated with Type 2 diabetes mellitus

scientific article

Multilocus analysis of hypertension: A hierarchical approach

scientific article published in January 2004

Multilocus genetic interactions and response to efavirenz-containing regimens: an adult AIDS clinical trials group study

scientific article

Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202.

scientific article published on 05 January 2017

Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity

scientific article

Neural networks for genetic epidemiology: past, present, and future

scientific article published on 17 July 2008

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases

scientific article

Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using Biofilter, and gene-environment interactions using the PhenX Toolkit.

scientific article published on January 2013

Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using biofilter, and gene-environment interactions using the Phenx Toolkit*.

scientific article

Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants

scientific article published on 14 September 2017

Novel methods for detecting epistasis in pharmacogenomics studies

scientific article published on September 2007

Optimization of neural network architecture using genetic programming improves detection and modeling of gene-gene interactions in studies of human diseases

scientific article

Optimizing drug outcomes through pharmacogenetics: a case for preemptive genotyping

scientific article published on 27 June 2012

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

scientific article published on 28 November 2016

PHENOME-WIDE INTERACTION STUDY (PheWIS) IN AIDS CLINICAL TRIALS GROUP DATA (ACTG).

scientific article

PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies

scientific article published on 27 October 2017

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

scientific article published in Nature Communications

Pacific Symposium on Biocomputing--computational approaches for pharmacogenomics

scientific article published on 01 March 2005

Parallel multifactor dimensionality reduction: a tool for the large-scale analysis of gene-gene interactions

scientific article

Pathway analysis by randomization incorporating structure-PARIS: an update

scientific article published on 7 March 2016

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

scientific article

Persistent atrial fibrillation is associated with reduced risk of torsades de pointes in patients with drug-induced long QT syndrome

scientific article published on February 2008

PharmCAT: A Pharmacogenomics Clinical Annotation Tool

scientific article published in December 2017

Pharmacogenomic Polygenic Response Score Predicts Ischemic Events and Cardiovascular Mortality in Clopidogrel-Treated Patients

scientific article published on 03 September 2019

Pharmacogenomics Clinical Annotation Tool (PharmCAT)

scientific article published on 17 September 2019

Pharmacogenomics of HIV Therapy: Summary of a Workshop Sponsored by the National Institute of Allergy and Infectious Diseases ⬇️

scientific article published on September 1, 2011

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger

scientific article published on 19 March 2018

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

scientific article

Phenome-Wide Association Studies: Embracing Complexity for Discovery

scientific article (publication date: 2015)

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

scientific article

Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols

scientific article

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

scientific article published on 29 October 2019

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

scientific article

Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network

scientific article

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis

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Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

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Pleiotropic genes for metabolic syndrome and inflammation

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Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals

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Polygenic heritability estimates in pharmacogenetics: focus on asthma and related phenotypes

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Polygenic inheritance of paclitaxel-induced sensory peripheral neuropathy driven by axon outgrowth gene sets in CALGB 40101 (Alliance).

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Polymorphism modulates symptomatic response to antiarrhythmic drug therapy in patients with lone atrial fibrillation

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Power of grammatical evolution neural networks to detect gene-gene interactions in the presence of error

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Power of multifactor dimensionality reduction for detecting gene-gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity

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Predicting censored survival data based on the interactions between meta-dimensional omics data in breast cancer

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Predicting clopidogrel response using DNA samples linked to an electronic health record.

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Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record

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Preparing next-generation scientists for biomedical big data: artificial intelligence approaches

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Probing the Virtual Proteome to Identify Novel Disease Biomarkers

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Problems with genome-wide association studies

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Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network ⬇️

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Quality control procedures for genome-wide association studies

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Rare variants in drug target genes contributing to complex diseases, phenome-wide

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Rates of COVID-19-related Outcomes in Cancer compared to non-Cancer Patients

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Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico

Regulation of cAMP levels in area CA1 of hippocampus by Gi/o-coupled receptors is stimulus dependent in mice

scientific article published in November 2004

Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity

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Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy

scientific article published on 12 December 2008

Renin-angiotensin system gene polymorphisms and atrial fibrillation

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Renin–angiotensin system gene polymorphisms and coronary artery disease in a large angiographic cohort: Detection of high order gene–gene interaction

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Replication of Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies

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Research directions in the clinical implementation of pharmacogenomics - An Overview of US programs and projects

scientific article published on 20 February 2018

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

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Risk factor interactions and genetic effects associated with post-operative atrial fibrillation

scientific article published in January 2006

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record

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Routine Discovery of Complex Genetic Models using Genetic Algorithms

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Rule based classifier for the analysis of gene-gene and gene-environment interactions in genetic association studies ⬇️

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Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

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Single-nucleotide polymorphisms for diagnosis of salt-sensitive hypertension

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Statistical Impact of Sample Size and Imbalance on Multivariate Analysis <i>in silico</i> and A Case Study in the UK Biobank

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Statistical Optimization of Pharmacogenomics Association Studies: Key Considerations from Study Design to Analysis ⬇️

scientific article published on March 1, 2011

Subsets of the major tyrosine phosphorylation sites in Crk-associated substrate (CAS) are sufficient to promote cell migration

scientific article published on 6 July 2004

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease

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Synthesis-View: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis

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Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

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

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Systems and genome-wide approaches unite to provide a route to personalized medicine

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Targeting the Coronavirus Nucleocapsid Protein through GSK-3 Inhibition

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Targeting the coronavirus nucleocapsid protein through GSK-3 inhibition

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The Challenges of Whole-Genome Approaches to Common Diseases

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

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The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study

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The central role of biological data mining in connecting diverse disciplines

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

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The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype

scientific article published on 08 October 2018

The effect of reduction in cross-validation intervals on the performance of multifactor dimensionality reduction

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The effects of linkage disequilibrium in large scale SNP datasets for MDR ⬇️

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The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research

scientific article published on 17 March 2015

The joint effect of air pollution exposure and copy number variation on risk for autism.

scientific article published on 27 April 2017

The phenotypic legacy of admixture between modern humans and Neandertals

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The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological interpretation.

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The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era ⬇️

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The use of a DNA biobank linked to electronic medical records to characterize pharmacogenomic predictors of tacrolimus dose requirement in kidney transplant recipients

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The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery

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Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults

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Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci

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Translational Bioinformatics: Biobanks in the Precision Medicine Era

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Trends in genomic variation: a view of some of the latest technologies

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Tribe: The collaborative platform for reproducible web-based analysis of gene sets

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Understanding the Evolutionary Process of Grammatical Evolution Neural Networks for Feature Selection in Genetic Epidemiology

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Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology

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Use of biological knowledge to inform the analysis of gene-gene interactions involved in modulating virologic failure with efavirenz-containing treatment regimens in ART-naïve ACTG clinical trials participants ⬇️

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Using BioBin to explore rare variant population stratification

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Using biological knowledge to uncover the mystery in the search for epistasis in genome-wide association studies

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Using knowledge-driven genomic interactions for multi-omics data analysis: metadimensional models for predicting clinical outcomes in ovarian carcinoma

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Using prior knowledge and genome-wide association to identify pathways involved in multiple sclerosis

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Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies

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Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies

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Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery

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Visual integration of results from a large DNA biobank (BioVU) using synthesis-view

scientific article published on January 2011

Visualizing SNP statistics in the context of linkage disequilibrium using LD-Plus

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Visualizing genomic information across chromosomes with PhenoGram

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Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View

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Why Is the Electronic Health Record So Challenging for Research and Clinical Care?

scientific article published on 20 July 2021

eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

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eMERGEing progress in genomics-the first seven years

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eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals

scientific article published on 17 July 2021

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