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 guidelines.

Methods

Using archives of ClinVar and HGMD, we investigated how variant misclassification has changed over 6 years, across different ancestry groups. We considered inborn errors of metabolism (IEMs) screened in newborns as a model system because these disorders are often highly penetrant with neonatal phenotypes. We used samples from the 1000 Genomes Project (1KGP) to identify individuals with genotypes that were classified by the databases as pathogenic. Due to the rarity of IEMs, n

SUBMITTER: Sharo AG 

PROVIDER: S-EPMC10347827 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature