James B Meigs

About

James B Meigs MD, MPH is a Professor of Medicine at Harvard Medical School and a primary care internist at Massachusetts General Hospital. He serves as the Director of the MGH Division of Clinical Research’s Clinical Effectiveness Research Unit and is an Associate Member of the Broad Institute. His research focuses on the cause and prevention of type 2 diabetes and cardiovascular disease, utilizing biochemical and genetic epidemiology as well as health services translational research approaches. He has been recognized with the ADA’s Kelly West Award for Outstanding Achievement in Diabetes Epidemiology in 2009. Dr. Meigs is a senior leader in numerous major international T2D genomics consortia, including MAGIC, DIAGRAM, AAGILE, CHARGE, and TOPMed-diabetes, and is involved in several NIH grants related to omics and cardiometabolic research. He has mentored over 50 early career investigators, most of whom have continued in academic medicine.

Research topics

• Biology
• Genetics
• Medicine
• Endocrinology
• Internal medicine
• Evolutionary biology
• Political Science
• Demography
• Computational biology
• Computer Science

Selected publications

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

  Nature · 2020 · 9986 citations

  . Here we describe the aggregation of 125,748 exomes and 15,708 genomes from human sequencing studies into the Genome Aggregation Database (gnomAD). We identify 443,769 high-confidence predicted loss-of-function variants in this cohort after filtering for artefacts caused by sequencing and annotation errors. Using an improved model of human mutation rates, we classify human protein-coding genes along a spectrum that represents tolerance to inactivation, validate this classification using data fr…

  DOI

• Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

  Nature · 2021 · 2261 citations

  . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These…

  DOI

• A genomic mutational constraint map using variation in 76,156 human genomes

  Nature · 2023 · 1281 citations

  PublisherOA PDFDOI

• A structural variation reference for medical and population genetics

  Nature · 2020 · 1149 citations

  and will have broad utility in population genetics, disease-association studies, and diagnostic screening.

  DOI

• Mapping the human genetic architecture of COVID-19

  Nature · 2021 · 1108 citations

  . They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international coll…

  DOI

Recent grants

• NIH Grant U01DK078616

  NIH · $3.6M · 2020

• TOPMed Omics of Type 2 Diabetes and Quantitative Traits

  NIH · $2.9M · 2008–2025

• NIH Grant R21DK065732

  NIH · $268k · 2007

Frequent coauthors

• Ramachandran S. Vasan

  National Heart Lung and Blood Institute

  1269 shared

• Emelia J. Benjamin

  Boston Medical Center

  775 shared

• Daniel Levy

  National Heart Lung and Blood Institute

  753 shared

• Ralph B. D’Agostino

  Wake Forest University

  739 shared

• José C. Florez

  Harvard University

  738 shared

• Caroline S. Fox

  Birmingham Women’s and Children’s NHS Foundation Trust

  701 shared

• Paul F. Jacques

  655 shared

• Josée Dupuis

  Boston University

  653 shared

Awards & honors

• ADA’s prestigious Kelly West Award for Outstanding Achieveme…

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