Close Menu
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 Economist reports that it is increasingly easier to analyze the metabolites people give off, potentially revealing personal information about them.

A controversial paper on the gender gap in science has been corrected, according to BuzzFeed News.

The Los Angeles Times reports that only a third of California students meet the state's new science standards.

In Science this week: evidence of interbreeding between the ancestors of West Africans and an unknown archaic human, and more.

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.

Mar
18
Sponsored by
Roche

This webinar will discuss data from a recent real-world comparison study evaluating performance of two cell-free DNA methodologies as first-line prenatal screens.

Mar
31
Sponsored by
Isoplexis

This webinar will discuss the application of single-cell proteomics and immune-imaging in adoptive cell therapy (ACT) for cancer.