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Solving Every Hereditary Disorder Case for All Types of Genetic Variation

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"Solving Every Hereditary Disorder Case for All Types of Genetic Variation"

Despite incredible advances in genomics, the NGS data interpretation workflow for hereditary diseases remains challenging. The field is rapidly evolving, and novel findings are uncovered daily, resulting in thousands of new articles on human genetic variants being added each week to PubMed. For genetic testing labs, missing even one article among millions can mean the difference between a diagnosis or an inconclusive result.

This on-demand webinar from Qiagen shows, through a series of use cases, how to maximize the diagnostic yield of hereditary disorders with QCI Interpret, a clinical decision support platform that can streamline the interpretation workflow using a comprehensive collection of up-to-date, manually curated molecular knowledge and bibliography evidence.

In this webinar, you will:

  • Learn about QCI Interpret’s analysis and interpretation workflow for hereditary diseases using targeted and extended gene panels, including WES/WGS.
  • View demonstrations of unique features in QCI Interpret, including how to input symptoms relevant to a case and receive relationships to candidate diseases and mutated genes using the Phenotype Network Analysis feature.
  • Learn how QCI Interpret supports CNV interpretation and reporting with bibliographic coverage of over 60,000 CNV case reports.

Offered Free by: Qiagen
See All Resources from: Qiagen

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