Close Menu
June 30, 2020
Sponsored by

Practices for Clinical Hereditary NGS Variant Interpretation


Founder and CEO,
Blackhawk Genomics

This webinar discusses the opportunity for clinical laboratories to implement efficient tertiary analysis pipelines and share best practices for selecting and implementing a tertiary analysis pipeline for variant interpretation.

Clinical laboratories are rapidly expanding both the scope and complexity of hereditary services offered utilizing next-generation sequencing. With this expansion come a significant number of challenges including turnaround time, the need for specialized clinical genetic knowledge and overall scalability. Adopting a thoughtful strategy for selection and implementation of appropriate tertiary analysis tools is critical to the success of a clinical NGS program.

In this educational webinar, Dr. Tootie Tatum of Blackhawk Genomics will discuss the following:

  • Market trends and opportunities for clinical laboratories performing hereditary NGS
  • Current challenges in NGS interpretation and ways to overcome them
  • Propose strategies to introduce NGS into the laboratory
  • Aligning the capabilities of variant interpretation solutions with laboratory resources
  • The importance of depth, breadth and completeness of quality variant interpretation content
Sponsored by

Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.

23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.

The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.

In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.