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Webinar

Scale Rare Disease Interpretation Using Franklin’s AI-Assisted Phenotype-Driven Analysis

Upcoming
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Oct 6, 2026
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3:00 AM (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 interpret variants across large panels and whole exome sequencing

Apply standardized ACMG classification with integrated evidence, including HGMD Professional and ClinGen guidance
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How to capture and reuse your lab’s accumulated knowledge

Build a centralized in-house knowledge base to reuse and scale your lab’s accumulated expertise

About this webinar

When the phenotype is complex and the number of candidate variants is overwhelming, finding the variants that matter can become a major interpretation bottleneck. Franklin by QIAGEN helps labs accelerate and standardize NGS interpretation for rare 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 evidence from 100+ integrated databases, Franklin gives your team one comprehensive environment to rapidly narrow searches and support more efficient, consistent rare disease interpretation across large panels and whole exome sequencing.

Speakers

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