AVE Clinical Variant Interpretation (CVI) Workstream

The Atlas of Variant Effects (AVE) Alliance aims to propel systematic and extensive measurement and analysis of the impact of genetic variants on functional elements of human, model organism and pathogen genomes, to further the understanding of genes, gene products and their regulation and empower the diagnosis and treatment of human disease.

The Clinical Variant Interpretation (CVI) workstream resolves issues relating to the use of MAVE data to interpret human genetic variants. Members of this group:

• Develop approaches for integrating variant effect maps with other sources of information in clinical interpretation
• Establish best practices for evaluating/benchmarking clinical utility of variant effect maps
• Exemplify use of variant effect maps in diagnostic practice

The Clinical Variant Interpretation (CVI) group is currently embarking on projects around:

• Standardizing truth sets
• A clinical prioritization strategy for development of MAVES
• Establishing guidelines for :
  • Combining evidence from MAVE with other available evidence
  • Using intermediate results from MAVES
  • Combining data from multiple assays (concordant/discordant)
• Working with other workstreams and other stakeholders to
  • Set guidelines for identifying assays (cell function) that are more reliable predictors of human pathogenicity
  • Set guidelines for use of MAVE data in somatic variant interpretation
  • Establish frameworks for the quantitative conversion of MAVE data to strength of evidence

All members are expected to follow the AVE Code of Conduct.

Please visit the AVE Alliance website for information on other workstreams.

Workstream Lead(s):

• Lea Starita and Clare Turnbull

Project Manager:

• Lara Muffley

Workstream Members:

• https://www.varianteffect.org/workstreams