Back to all Workstreams

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