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Paper Details

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Genome Med
6
2023
ClinVar variants, HGMD, HGMD variants, IEM, IEMs, genomic variant, inborn errors of metabolism
Author NameAffiliation
Steven E BrennerUniversity of California berkeley
Steven E BrennerCenter for Computational Biology, University of California berkeley
Steven E BrennerUniversity of California berkeley
Steven E BrennerUniversity of California berkeley
Steven E BrennerCenter for Computational Biology, University of California berkeley
Steven E BrennerUniversity of California berkeley
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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