ClinGen/AVE Functional Data Working Group
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
Dustin Baldridge
Kevin TA Booth
Alicia Byrne
Jeffrey Calhoun
Rui Chen
Randy Cockerell
Shawn Fayer
Andrew Glazer
Jenny Goldstein
Christopher Heinen
Sujatha Jagannathan
Melissa Landrum
Ashley Marsh
Lara Muffley
Tina Pesaran
Lizzie (Elizabeth) Radford
Deborah Ritter
Frederick Roth
Alan Rubin
Amanda Spurdle
Lea Starita
Patricia Sullivan
Clare Turnbull
Rehan Villani
Barbara Vona
Alex Wagner