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Quest Diagnostics

Harnessing Advances for Improving Exome

Date: Wednesday, April 24, 2019

Description: Drs Karbassi and Mullen discuss the value of exome testing in clinical practice and the clinical value of a high-quality exome and expert variant interpretation. At the conclusion of this program, participants will be able to: • Illustrate the role of exome testing in clinical practice and the economic value to the patient and health system • Describe the clinical value of high-quality depth of coverage and the inclusion of mitochondrial and CNV analysis in exome testing • Discuss the importance of expert human variant interpretation with knowledge-based automation in defining the quality of exome test results ASCLS P.A.C.E.® credits are available to laboratory professionals through October 23, 2019.

Authors:
Karbassi, Izabela, PhD, FACMG
Director of Science Variant IQ
Quest Diagnostics
Marlborough, MA

Mullen, Thomas, PhD, FACMG
Senior Director of Science, R&D and Genomics
Quest Diagnostics
Marlborough, MA

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