ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

Abstract Background Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassification is abating as these databases rapidly grow and implement new guidel...

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Bibliographic Details
Main Authors: Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, Steven E. Brenner
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Genome Medicine
Subjects:
ClinVar
HGMD
Pathogenic variant
Variant curation
Variant classification
Inborn errors of metabolism
Online Access:https://doi.org/10.1186/s13073-023-01199-y

Internet

https://doi.org/10.1186/s13073-023-01199-y

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