HGMD

Hybrid Variant Interpretation: Combining AI + Expert Curation to Streamline Hereditary Clinical Testing

10 views
March 06, 2026

As hereditary NGS testing grows more complex, clinical labs must interpret variants with greater speed and accuracy. This webinar introduces Franklin by QIAGEN, now integrated with HGMD Professional, combining AI-powered workflows and automated ACMG annotation with the leading expert-curated germline database. Together, they enable faster, evidence-backed interpretation, reduce manual review, and boost reporting confidence by minimizing missed clinically relevant findings.

In this webinar, you’ll see how Franklin + HGMD accelerates variant matching, streamlines VUS assessment, supports long-read sequencing, and delivers instant access to curated clinical and functional evidence—all through a unified interpretation workflow.

Key highlights include:

  • Integrated ACMG-based annotation + automatic literature curation for evidence-backed interpretation

  • Instant variant matching to quickly identify known, reported, or novel variant

  • Faster VUS resolution with direct access to relevant publications and functional data

  • Minimal manual literature search with direct links to HGMD Professional in-platform

  • Long-read sequencing support for interpreting complex alleles and structural variants

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