Connecting variants to function (V2F)

Over the last decade, researchers have identified tens of thousands of tiny DNA alterations, called genetic variants, that affect a person’s risk for common conditions such as heart disease, schizophrenia, and autoimmune diseases. However, scientists don’t know what these variants do, the genes they affect, or which cells they act in. At the Broad Institute, researchers from a variety of disciplines have come together in an initiative called Variant to Function, which aims to understand the biological role of these genetic alterations in disease. Researchers are using the latest tools in data science, machine learning, single-cell analysis, disease modeling, and genetic screening to tackle this problem in a systematic way.

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