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Solve Every Case for All Types of Genetic Variation in Hereditary Disorders – May. 5

Date: 2022/05/05 Duration: 01:00:00 Presented by: Georgios Stamoulis, Ph.D. Digital Insights Director of Global Product Management for Hereditary diseases
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.
In this webinar, we will show you how to maximize your diagnostic yield of hereditary disorders with QCI Interpret. A clinical decision support platform powered by augmented molecular intelligence, QCI Interpret streamlines the interpretation workflow and uses the world’s most comprehensive collection of globally trusted, up-to-date, manually curated molecular knowledge and bibliography evidence to give you the best possible chance of solving any case while taking your turnaround time from hours to minutes. Through a series of use-cases, we will show you how QCI Interpret ensures a complete and thorough investigation of every case for all types of genetic variation, including CNVs, so you can deliver clear answers to patients and their families every time.
Learning Objectives
  • 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

Click here to register.