Center for Actionable Variant Analysis (CAVA)

“Measuring variant function at scale”

CAVA logo


Overview

Center for Actionable Variant Analysis - advancing genomics in patient care. Part of Impact of Genomic Variation on Function (IGVF) Consortium (NHGRI multimillion-dollar , multi-center collaborative initiative).

Objectives

  • Build a clinically-focused variant function database
  • Accelerate understanding of how genomic variants influence genome function
  • Develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes
  • Harness existing technologies- such as Saturation Genome Editing (SGE) and variant abundance by massively parallel sequencing (VAMP-seq) - to produce high quality, clinically useful functional data at single nucleotide resolution
  • Information generated by the consortium will be made freely available to the research community

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