Overcoming Challenges of CNV and Sequence
Variant Interpretation in the Clinical Lab
THURSDAY, JULY 21, 2022
Interpretation of CNVs and sequence variants is a complex process that includes evaluating multiple evidence sources to reach a final interpretation and classification, which ultimately impacts patient diagnosis and management. One of these critical evidence sources is scientific literature describing the relevance of interpreted variants to human disease. Thus, in a clinical laboratory setting, a robust framework for quickly and accurately finding and reviewing new publications is essential.
In this webinar, Kai Lee Yap, PhD, FACMG and Brittnee Jones, PhD review a variety of real-life clinical cases that illustrate how the Mastermind Genomic Search Engine creates more positive molecular diagnoses that may otherwise not be achieved.
You will learn how:
- Lurie Children’s Molecular Diagnostics Laboratory uses Mastermind in their clinical interpretation workflow
- Mastermind’s comprehensive search interface helps clinical diagnostic labs quickly find the relevant literature needed to interpret patient variants and CNVs
- The discovery of a single publication can significantly impact the diagnosis of rare pediatric germline conditions