Article

Toward Automatic Variant Interpretation: Discordant Genetic Interpretation Across Variant Annotations for ClinVar Pathogenic Variants

2025-04-01

Abstract excerpt

<title>Abstract</title> <p>Background High-throughput sequencing has revolutionized genetic disorder diagnosis, but variant pathogenicity interpretation is still challenging. Even though the Human Genome Variation Society (HGVS) provides recommendations for variant nomenclature, discrepancies in annotation remain a significant hurdle. Results In this study, we evaluated the annotation concordance between three...

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Literature Corpus work: 60089315-942e-5bbb-8d60-b08216d450c0
DOI: 10.21203/rs.3.rs-5886884/v1

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