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Webinar

Scale hereditary disease interpretation using Franklin analysis with HGMD evidence

Recording pending
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Oct 20, 2026
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5:00 PM (GMT+0)
+2 other
0Days0Hours0Minutes0Seconds

You will learn

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How to narrow large candidate variant lists using phenotype-driven analysis and AI-assisted variant prioritization

Connect phenotype to genotype more effectively to identify variants most relevant to complex or heterogeneous rare disease presentations
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How to apply HGMD evidence to interpret variants across large panels and WES

Apply standardized ACMG classification with integrated evidence, including HGMD Professional and ClinGen guidance
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How to quickly identify known, reported or novel variants

Accelerate variant matching and streamline VUS assessment with direct access to relevant publications and functional data

About this webinar

As hereditary NGS testing grows more complex, clinical labs must interpret variants with greater speed and accuracy. Franklin by QIAGEN, now integrated with HGMD Professional, helps labs accelerate and standardize NGS interpretation for hereditary disease analysis, turning millions of variants into a concise list of clinically relevant findings. By bringing together AI-assisted variant prioritization, phenotype-driven analysis, automated ACMG classification and expert-curated evidence from HGMD Professional, Franklin gives your team one comprehensive environment to rapidly narrow searches and support more efficient, consistent hereditary disease interpretation across large panels and whole exome sequencing.

Speakers

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