NOV 08, 2017 1:30 PM PST

Rapid Variant Interpretation and Reporting Using the QIAGEN Knowledgebase and QIAGEN Clinical Insight - Interpret (QCI-I)

Speaker
  • Principal Genome Scientist, Bioinformatics - Genetic Disease , QIAGEN
    Biography
      Jennifer received a B.S. in Genetics from the University of Connecticut and went on to receive a Ph.D. in Human Genetics at the Johns Hopkins School of Medicine. During her graduate training, she used Ingenuity Pathway Analysis and was so impressed with the tool that she approached QIAGEN for the opportunity to support their bioinformatics portfolio. Currently, she is the lead genome scientist supporting QIAGEN's software solutions for analysis and interpretation of variants implicated in hereditary disease.

    Abstract

    The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accurate information is critical to computing variant classifications. Manual curation is laborious, time consuming, and error prone, as information critical to variant interpretation may be missed. The QIAGEN knowledgebase includes the most comprehensive database of variant specific publications, as well as data from third party sources such as ClinVar, HGMD, CentoMD, and OMIM. In this webinar, you will learn how the QIAGEN knowledgebase functions as the cornerstone of our clinical decision support tool (QIAGEN Clinical Insight – Interpret; QCI-I), facilitating rapid variant filtering, interpretation, and reporting across multiple public and propriety databases.


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