Article
Integrating Genetic Data and Electronic Medical Records to Reassess Variant Pathogenicity in the Taiwanese Han Population.
Genes - 17 Jul 2026
Lin Wei-De, Liu Ting-Yuan, Chen Yu-Chia, Liao Chi-Chou, Tsai Fuu-Jen
Abstract excerpt
BACKGROUND: Variant interpretation in clinical genomics requires integration of population-specific allele frequencies, curated database annotations, and phenotype evidence. However, variants annotated as pathogenic or likely pathogenic in reference databases may have different allele frequencies across populations, and electronic medical record (EMR) data may provide useful but incomplete clinical context....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.