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IGVF (Impact of Genomic Variation on Function)

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IGVF: Unlocking the Secrets of Human Genomic Variation

The IGVF consortium unites diverse laboratories to unravel the complex relationship between human genetic variation and its impact on various cellular and molecular processes. By integrating novel experimental assays with sophisticated computational analyses, researchers aim to:

  • Discover associations and networks between genetic variations, chromosomal elements, and molecular phenotypes.
  • Elucidate their intricate interplay in human cells and tissues.
  • Make all experimental and computational results readily accessible through the IGVF Portal.

The Data and Administrative Coordinating Center (DACC) significantly enhances the consortium's efforts by:

  • Verifying and validating submitted data.
  • Documenting metadata for each sample and assay method.
  • Creating a state-of-the-art data warehouse and robust software.
  • Developing unified data processing pipelines.

The Cherry Lab focuses on:

  • Meticulously curating and validating large-scale human genome datasets.
  • Making these resources available to researchers for knowledge discovery.
  • Developing user-friendly software tools for accessing and analyzing data.
  • Creating a comprehensive online research resource for human single-gene studies.

Collaborators:

  • Washington University (data visualization and administrative needs)
  • Northwestern University (data visualization and administrative needs)
  • Yale University (interactions with computational working groups and network models)

Funding:

  • US National Institutes of Health, National Human Genome Research Institute (grant U24HG012012)

This collaborative effort holds immense potential to revolutionize our understanding of human health and disease, paving the way for breakthroughs in personalized medicine.

Visit the IGVF Portal to explore this valuable research resource!

IGVF Portal