The Bioinformatics Consortium provides bioinformatics and wider genomics service, consulting, education and training for fundamental biological, preclinical and clinical investigators at Mass General and in the broader research community.

Computational data management, analysis, and interpretation have become both a major driver and major bottleneck in many areas of biomedical research.

The goal of the Massachusetts General Hospital Bioinformatics Consortium is to provide bioinformatics and wider genomics service, consulting, education and training for biological, preclinical and clinical investigators at Mass General and in the broader research community.

Through service and collaboration with partners from academia and industry, we develop and support the informatics component of fundamental, translational and clinical research projects.

Combined with our wet-lab capabilities for next-generation sequencing, this service provides a fully integrated resource for genomics studies in both preclinical and clinical settings. Through consulting, we help our partners design and execute experimental or clinical data generation and management, as well as implement best practices for quantitative analysis in order to produce powerful and relevant biomedical data.

Through educational outreach, we educate our partners in general Bioinformatics concepts and methods, and help them think about the data in quantitatively rigorous terms. Through training, we help researchers acquire hands-on computational skills in basic statistics, experimental design, and Bioinformatics workflows.

The Consortium includes highly acclaimed groups associated with Massachusetts General Hospital, Harvard Medical School, and Broad Institute, with outstanding record of both collaborative and independent Bioinformatics research.

Our expertise covers all major aspects of project workflow in both fundamental and clinical Bioinformatics: experimental/study design, high-throughput data generation, large-scale data management, state-of-the-art computational analysis, interpretation of the results in the context of specific project goals, and presentation of findings and hypotheses for further experimental or clinical validation.

Examples of our major areas of expertise include

  • Next-generation sequencing of biological and clinical samples: whole genome and targeted sequencing, profiling of gene expression, DNA methylation, chromatin modifications etc.
  • Genome variant and gene expression analysis; interpretation of the results in the clinical context of disease and pharmacogenetic response
  • Visualization and annotation of genome variants and other genomic data using custom knowledge
    management platforms
  • Biomarker discovery, development of sequence-based genetic diagnostic tests
  • Analysis of genome-wide patterns of DNA and chromatin modifications, protein DNA binding, and chromatin
    interactions in wider contexts of publicly available biomedical data
  • Analysis of protein sequence, structure, and molecular pathways
  • Development of data management solutions for complex genomics and drug discovery assay datasets
  • Development of platforms for collective management, sharing, and analysis of information related to
    collaborative clinical studies and specimen bio-repositories available to project stakeholders and broader
    research community
  • Development of custom knowledge bases of diseases based on large-scale curated literature analysis and
    public biomedical databases

Charter or Founding Consortium Members