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Past Webinars

Invitae exome interpretation: Leading with science and innovation to bring exomes to scale (for Asia/Pacific time zones)

Heather McLaughlin and Amy Knight-Johnson
February 23, 2021
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It’s challenging to do exome sequencing well, but with the right combination of clinical expertise and leading-edge technology, it’s possible to achieve comprehensive, reproducible, and accurate results. 
 
But that’s not enough, as changes, such as the publication of new gene-disease associations or the development of new clinical findings, often occur. To ensure you always have the most recent results—without any extra work on your part—we’re providing continual, automatic re-analysis.

This webinar will help you:

  • recognize current challenges of clinical exome sequencing for rare genetic disorders
  • summarize how Invitae is addressing these challenges through its variant interpretation processes and its recent acquisition and integration of Diploid’s Moon and Apollo software
  • compare and contrast variant re-evaluation and case-level reanalysis definitions and processes.

Stand by for launch: An in-depth look at the data from an RNA analysis pilot study

Sarah Garcia, PhD, MS, CGC and Keith Nykamp, PhD
February 17, 2021
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The utility of RNA analysis to uncover etiologies of hereditary disease is an active area of investigation. While there are studies showing some benefits of RNA analysis for variant detection and classification, there are important complexities to consider when implementing this technology into clinical laboratory practices.

This webinar will help genetic counselors and healthcare providers understand RNA analysis in variant detection and variant classification, its benefits, and potential limitations.

Learning objectives:

  1. Evaluate the role of RNA analysis in variant detection and variant classification.
  2. Review current guidelines involving the use of RNA data in variant classification
  3. Examine RNA data from a pilot study.

Invitae exome interpretation: Leading with science and innovation to bring exomes to scale

Heather McLaughlin and Amy Knight-Johnson
January 12, 2021
View Recording

At Invitae, we understand that you always want the most accurate, up-to-date information about your patient’s exome—without extra work required on your part. Every six months (for a period of three years from the exome report date), Invitae now automatically runs an expert, case-level reanalysis of your patient’s exome.

How are we able to do this? Invitae recently integrated Moon, an intelligent software engine into our exome platform. Moon allows for more efficient, comprehensive, and personalized exome sequencing. 

Learning objectives:

  • Recognize current challenges of clinical exome sequencing for rare genetic disorders.
  • Summarize how Invitae is addressing these challenges through its variant interpretation processes and its recent acquisition and integration of Diploid’s Moon and Apollo software.
  • Compare and contrast variant re-evaluation and case-level reanalysis definitions and processes.