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ClinGen/AVE Functional Data Working Group
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.
Lea Starita
BBI/UW
Dr. Starita is an Assistant Professor. in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.
Clare Turnbull
ICR
Professor Clare Turnbull is a Professor of Translational Cancer Genetics at the Institute for Cancer Research, London, and a NHS Consultant in Clinical Cancer Genetics at The Royal Marsden NHS Foundation Trust and Consultant in Public Health Medicine for NHS Digital. Her work focuses on implementation of effective, evidenced cancer susceptibility genetic testing in the diagnostic setting, one part of which is ensuring accuracy and consistency on classification of variants.
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 (Centre for Cancer Research, University of Melbourne)
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 (Ambry Genetics)
This Working Group will focus on approaches for calibration of functional assays for use in variant classification.