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Paper Details

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Am J Hum Genet
8
2023
ClinVar benign variants, PVS1, Predicted, autosomal-recessive disease, homopolymer repeat, last exon, loss-of-function variants, pLoF variants, secondary sequence, transcripts
Author NameAffiliation
Moriel Singer-BerkBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Samantha BaxterBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Samantha BaxterBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Eleanor G SeabyBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston Children's Hospital, Harvard Medical School, University Hospital Southampton
Eleina EnglandBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston Children's Hospital, Harvard Medical School
Rachel G SonBroad Institute of MIT and Harvard
Nicholas A WattsBroad Institute of MIT and Harvard
Konrad J KarczewskiBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Konrad J KarczewskiBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Daniel G MacArthurBroad Institute of MIT and Harvard, Garvan Institute of Medical Research and UNSW Sydney, Murdoch Children's Research Institute
Daniel G MacArthurBroad Institute of MIT and Harvard, Garvan Institute of Medical Research and UNSW Sydney, Murdoch Children's Research Institute
Heidi L RehmBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Heidi L RehmBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston Children's Hospital, Harvard Medical School
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard, USA Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston Children's Hospital, Harvard Medical School
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Datasets

ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink