P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort

• Emily Groopman,
• Moriel Singer-Berk,
• Nicola Whiffin,
• Jamie Ellingford,
• Samantha Baxter,
• Heidi Rehm,
• Anne O’Donnell-Luria

Affiliations

Emily Groopman

Broad Institute of MIT and Harvard, Cambridge, MA; Boston Children’s Hospital, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA

Moriel Singer-Berk

Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA

Nicola Whiffin

Wellcome Centre for Human Genetics at the University of Oxford, Oxford, UK

Jamie Ellingford

Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Biology, Medicines and Health, University of Manchester, Manchester, UK

Samantha Baxter

Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA

Heidi Rehm

Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA

Anne O’Donnell-Luria

Broad Institute of MIT and Harvard, Cambridge, MA; Boston Children’s Hospital, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA