P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

• Marina DiStefano,
• Joanna Amberger,
• Christina Austin-Tse,
• Marie Balzotti,
• Mutaz Amin,
• Jonathan Berg,
• Carol Bocchini,
• Elspeth Bruford,
• Fowzan Alkuraya,
• Alison Coffey,
• Heather Collins,
• Fiona Cunningham,
• Helen Firth,
• David Fitzpatrick,
• Yaron Einhorn,
• Jennifer Goldstein,
• Ada Hamosh,
• Sarah Leigh,
• Ivone Leong,
• Christa Martin,
• Ellen McDonagh,
• Arina Puzriakova,
• Ana Rath,
• Angharad Roberts,
• Kelly Radtke,
• Erin Ramos,
• Erin Riggs,
• Charlotte Rodwell,
• Katrin Sangkuhl,
• Catherine Snow,
• Zornitza Stark,
• Jackie Tahiliani,
• James Ware,
• Eleanor Williams,
• Caroline Wright,
• Michael Yates,
• Phillip Weller,
• Heidi Rehm

Affiliations

Marina DiStefano

The Broad Institute

Joanna Amberger

Johns Hopkins

Christina Austin-Tse

Massachusetts General Hospital

Marie Balzotti

Myriad Womens Health

Mutaz Amin

Orphanet

Jonathan Berg

UNC School of Medicine

Carol Bocchini

Johns Hopkins

Elspeth Bruford

HGNC

Fowzan Alkuraya

King Faisal Specialist Hospital and Research Center

Alison Coffey

Illumina

Heather Collins

National Library of Medicine

Fiona Cunningham

European Molecular Biology Laboratory

Helen Firth

Cambridge University

David Fitzpatrick

University of Edinburgh

Yaron Einhorn

Genoox

Jennifer Goldstein

UNC Chapel Hill

Ada Hamosh

Johns Hopkins

Sarah Leigh

Genomics England

Ivone Leong

Genomics England

Christa Martin

Geisinger

Ellen McDonagh

European Molecular Biology Laboratory

Arina Puzriakova

Genomics England

Ana Rath

Orphanet

Angharad Roberts

Imperial College London

Kelly Radtke

Ambry

Erin Ramos

NHGRI

Erin Riggs

Geisinger

Charlotte Rodwell

Orphanet

Katrin Sangkuhl

Stanford University

Catherine Snow

Genomics England

Zornitza Stark

PanelApp Australia

Jackie Tahiliani

Invitae

James Ware

Imperial College London

Eleanor Williams

Genomics England

Caroline Wright

University of Exeter

Michael Yates

University of Edinburgh

Phillip Weller

Geisinger

Heidi Rehm

Massachusetts General Hospital