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
