Identification of Misclassified ClinVar Variants via Disease Population Prevalence
There is a significant interest in the standardized classification of human genetic variants. We used whole-genome sequence data from 10,495 unrelated individuals to contrast population frequency of pathogenic variants to the expected population prevalence of the disease. Analyses included the ACMG-recommended 59 gene-condition sets for incidental findings and 463 genes associated with 265 OrphaNet conditions. A total of 25,505 variants were used to identify patterns of inflation (i.e., excess genetic risk and misclassification).
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, Rachana Sainger, C. Thomas Caskey, J. Craig Venter, Amalio Telenti Tags: Article Source Type: research
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