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ABOUT: This Working Group will focus on approaches for calibration of functional assays for use in variant classification, guiding Variant Curation Expert Panel (VCEP) use of multiplexed assays of variant effects (MAVE) data, facilitating the development and testing of VCEP curated variants in MAVE and other functional assays, informing priorities of large-scale efforts to generate functional data as well as functional data model development and providing input on how to effectively integrate functional data into ClinGen tools.

Workstream lead(s):

Lea Starita (BBI/UW) and Clare Turnbull (ICR)

Contributors/ Members:

Sophie Allen (ICR)
Dustin Baldridge (WashU)
Kevin TA Booth (Indiana University)
Alicia Byrne (Broad Institute/ Harvard)
Jeffrey Calhoun (Northwestern)
Rui Chen (University of California, Irvine)
Randy Cockerell (UNC)
Shawn Fayer (BBI, UW)
Andrew Glazer (Vanderbilt University)
Anna L Gloyn (Stanford)
Jenny Goldstein (UNC)
Christopher Heinen (University of Connecticut)
Sujatha Jagannathan (University of Colorado Anschutz)
Melissa Landrum (NIH/NCBI)
Ashley Marsh (Ambry Genetics)
Lara Muffley (University of Washington)
Tina Pesaran (Ambry Genetics)
Lizzie (Elizabeth) Radford (Cambridge)
Deborah Ritter (Baylor College of Medicine)
Frederick Roth (Univ. of Pittsburgh)
Alan Rubin (WEHI)
Amanda Spurdle (QIMR Berghofer)
Lea Starita (BBI/UW)
Patricia Sullivan (Children’s Cancer Institute)
Clare Turnbull (ICR)
Rehan Villani (QIMR Berghofer)
Barbara Vona (University Medical Center Göttingen)
Alex Wagner (Nationwide Children’s Hospital)
Daniel Zimmerman (University of Pittsburgh)