Center for Actionable Variant Analysis (CAVA)
“Measuring variant function at scale”
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).
- 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