Center for Actionable Variant Analysis (CAVA)

“Measuring variant function at scale”

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

Resources and News Coverage:

• UW Newsroom
• BBI Press release
• NHGRI announcement