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Paper Details

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
5
2024
Clinical Genome Resource, Low, Penetrance/Risk Allele, Risk Allele, risk alleles
Author NameAffiliation
Laura K ConlinPerelman School of Medicine at the University of Pennsylvania Division of Genomic Diagnostics, Children's Hospital of Philadelphia Department of Pathology & Cell Biology, Columbia University Irving Medical Center.
Heidi L RehmCenter for Genomics Medicine, Massachusetts General Hospital Medical and Population Genetics, Broad Institute of MIT and Harvard.
Heidi L RehmCenter for Genomics Medicine, Massachusetts General Hospital Medical and Population Genetics, Broad Institute of MIT and Harvard.
Erin Rooney RiggsGeisinger Autism & Developmental Medicine Institute.
Panagiotis I SergouniotisUniversity of Manchester
Matthew S LeboBrigham and Woman's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard. Electronic address: .
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