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Paper Details

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
medRxiv
2
2023
ACMG SF 2, human
Author NameAffiliation
Angharad M RobertsNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London
Angharad M RobertsGreat Ormond Street Hospital
Angharad M RobertsNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London
Angharad M RobertsGreat Ormond Street Hospital
Marina T DiStefanoBroad Institute of MIT and Harvard
Erin Rooney RiggsGeisinger Autism & Developmental Medicine Institute
Fowzan S AlkurayaCenter for Genomic Medicine
Joanna S AmbergerJohns Hopkins University School of Medicine
Jonathan S BergUniversity of North Carolina at Chapel Hill
Fiona CunninghamEuropean Bioinformatics Institute
Fiona CunninghamEuropean Bioinformatics Institute
Karen EilbeckUniversity of Utah
Helen V FirthCambridge University Hospitals
Helen V FirthWellcome Sanger Institute
Julia ForemanWellcome Sanger Institute
Julia ForemanEuropean Bioinformatics Institute
Ada HamoshJohns Hopkins University School of Medicine
Christa Lese MartinClinical Genome Resource (ClinGen)
Ellen M McDonaghEuropean Bioinformatics Institute
Ellen M McDonagh
Daniel PerrettEuropean Bioinformatics Institute
Erin M RamosNational Human Genome Research Institute, National Institutes of Health
Peter N Robinson
Peter N Robinson
Ana RathINSERM
Ana RathINSERM
Zornitza Stark
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute
Zornitza StarkUniversity of Melbourne
Heidi L RehmBroad Institute of MIT and Harvard
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
Heidi L RehmBroad Institute of MIT and Harvard
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
James S WareNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London
James S WareBroad Institute of MIT and Harvard
James S WareEuropean Bioinformatics Institute
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Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2