Article

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

2024-10-15

Abstract excerpt

<h4>Purpose</h4> 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. <h4>Methods</h4> This study evaluated the annotation concordance between three tools— ANNOVAR, SnpE...

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Literature Corpus work: 9e51e32a-71b5-577b-9e00-58e9ace94962
DOI: 10.1101/2024.10.11.617756

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