Our Research

We advance the understanding of human health and biology through novel computational methods applied to large and diverse datasets.

We lead and collaborate in national and international research, advise at the highest levels of government and academia, and actively seek collaborations, recognizing the value and impact of team science.

Our researchers have collectively published more than 1,000 papers in scholarly journals in a wide range of scientific fields.  The National Library of Medicine assigns Medical Subject Heading (MeSH) terms to all biomedical publications - the graph to the right shows the breakdown of MeSH terms for our institute publications.  Links to many of our publications can be found below.

Featured Publications

You can sort our publications by the following MeSH terms:


Reducing Clinical Noise for Body Mass Index Measures Due to Unit and Transcription Errors in the Electronic Health Record.
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.
A population-specific reference panel empowers genetic studies of Anabaptist populations.
Germline Genetic Variants and Lung Cancer Survival in African Americans.
Photo-documentation in the community: reflections on genetics, health and health disparities.
Genomic newborn screening: public health policy considerations and recommendations.
Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses.
Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts?
Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium.
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.
Pathway analysis by randomization incorporating structure-PARIS: an update.
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network.
Population Stratification in the Context of Diverse Epidemiologic Surveys Sans Genome-Wide Data.
Is Isolated Low High-Density Lipoprotein Cholesterol a Cardiovascular Disease Risk Factor? New Insights From the Framingham Offspring Study.
Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium.
American Brain Tumor Association Adolescent and Young Adult Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2008-2012.
Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry.
Knowledge-constrained K-medoids Clustering of Regulatory Rare Alleles for Burden Tests.
eMERGEing progress in genomics-the first seven years.
Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies.
LD-spline: mapping SNPs on genotyping platforms to genomic regions using patterns of linkage disequilibrium.