Data Coordination and Dissemination (DCD)
DCD Strategic ROADMAP
ABOUT: The Clinical Variant Interpretation (CVI) workstream resolves issues relating to the use of MAVE data to interpret human genetic variants. Members of this team:
- 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
Workstream lead(s):
Alan Rubin (WEHI) and Julia Foreman (DECIPHER, EMBL-EBI)
Contributors/ Members:
Jeremy Arbesfeld (Nationwide Children’s Hospital, Wagner Lab)
Carol Bult (The Jackson Laboratory)
Melissa Cline (UC Santa Cruz)
Erwan Delage (Wellcome Sanger Institute)
Helen Firth (Newnham College, Cambridge)
Sarah Hunt (Ensembl)
Sumaiya Iqbal (Broad Institute)
Rachid Karam (Ambry Genetics)
Shannon McNulty (UNC)
Kevin Riehle (ClinGen)
James Stephenson (EMBL-EBI)
Alex Wagner (Nationwide Children’s Hospital; GA4GH)
Andy Yates (EMBL-EBI)