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December 10, 2019
Sponsored by
Congenica II

Maximizing Diagnostic Yield with an Optimized Variant Interpretation Platform

GenomeWebinar

Postdoctoral Researcher,
Royal College of Surgeons Ireland (RCSI)

This webinar discusses the use of next-generation sequencing and an optimized variant interpretation workflow to increase diagnostic yield in complex clinical cases.

Using specific case examples as illustrations, Dr. Katherine Benson of the Royal College of Surgeons Ireland discusses how her team has implemented an all-in-one solution for the analysis and interpretation of sequencing results in the epilepsy clinic. She details how this approach has increased diagnostic yield across all cohorts in a national epilepsy genomics project.

This webinar is a must-see for anyone working to optimize the diagnosis of complex clinical cases and improve patient outcomes in rare and inherited diseases.

In this webinar you will learn how to:

  • Increase efficiency of NGS data analysis and interpretation
  • Improve diagnostic yield in complex clinical cases
  • Provide faster, more accurate answers for patients
Sponsored by

The Washington Post reports that a Russian Academy of Sciences commission has led to the retraction of hundreds of scientific papers.

The Los Angeles Times' Daily Pilot reports the chief executive of Vantari Genetics has pleaded guilty in a kickback scheme.

News 4 Jax reports that a Florida bill to prevent life and long-term care insurers from using genetic information in their coverage decisions has easily passed one committee.

In Science this week: potentially pathogenic mutations found in hematopoietic stem cells from young healthy donors, and more.

Feb
05
Sponsored by
LGC

This webinar will provide a behind-the-scenes look at the collaborative development of a novel multiplex assay to speed detection of mosquito-borne illness in the clinical setting.

Feb
20
Sponsored by
Thermo Fisher Scientific

This webinar will discuss the use of 3’ mRNA sequencing to reduce the cost of gene expression studies on Illumina NGS systems.

Feb
27
Sponsored by
Stilla

Since the publication of the “The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments” (dMIQE) in 2013, there has been a large expansion of the applications of dPCR such as single nucleotide variations (SNVs) and copy number variations (CNVs) measurements associated with disease diagnostics.