Overcoming Challenges of CNV and Sequence
Variant Interpretation in the Clinical Lab

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


Kai Lee Yap bio photo circle

Kai Lee Yap, PhD, FACMG

Director of Molecular Diagnostics, Ann & Robert H. Lurie Children’s Hospital of Chicago
Kai Lee is the Director of the Lurie Children’s Molecular Diagnostics Laboratory. Her clinical expertise lies in the genetic diagnosis of pediatric constitutional disorders and childhood malignancies.

Brittnee Jones, PhD

Director of Customer Success, Genomenon
With over a decade building and leading customer success teams across the NGS space, Brittnee ensures rapid product adaption and maximal value for Mastermind users.