How to help improve diagnostic yield: from data quality to real clinical cases

Date & Time

June 29th, 2023 | 5.30 pm CEST (8.30 am PDT)

Webinar Description

High-quality sequencing data is essential for the identification of genetic variants, especially in clinical contexts. However, data quality can vary significantly depending on the sequencing methodology deployed.

In this webinar, Dr. Isabell Schumann from the Institute of Human Genetics, University of Leipzig Medical Center, will describe how the choice of sequencing methodology, including multigene-panel, whole-exome, and whole-genome sequencing, influences data quality. Dr. Schumann will also evaluate options for improving data quality in the context of routine diagnostics and highlight the importance of choosing the appropriate sequencing method.

In this webinar you will:
  • Discover the impact of sequencing methodology on data quality
  • Hear how total coverage, sequencing depth, and read output influence the evaluation of clinical cases
  • Explore options for improving data quality
  • Find out how Twist fixed and custom NGS panels deliver superior enrichment efficiency and results

Webinar Registration
Results are specific to the institution where they were obtained and may not reflect the results achievable at other institutions.

Speaker

Dr. rer. nat. Isabell Schumann
Biologist, Scientific Assistant and Deputy Teams Leader | University of Leipzig Medical Center - Institute of Human Genetics
Isabell Schumann obtained her PhD at Leipzig University, where she specialized in bioinformatic, molecular, and evolutionary characterization of arthropods. Following this, at the Institute of Human Genetics, University of Leipzig Medical Center, she worked in clinical genomics, evaluating whole-exome data, before moving to the Molecular Genetics Group. Dr. Schumann is now Deputy Team Leader of the group and co-leads the group in routine diagnostics, establishment of new methods, as well as teaching and researching.
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