Personal Genome Diagnostics, Inc.

Samuel V Angiuoli

Derrick Wood

David Riley

Presented herein are techniques for qualifying, checking and monitoring the use of diagnostic apparatuses and reagents, such as sequencing apparatuses and reagents, to ensure performance and quality of diagnostic methods. In one aspect, a system is provided for determining whether a sequencing run is a qualification run. The system includes a memory configured to store identifiers of sequencing apparatuses and an associated status, a network interface configured to communicate with a sequencing apparatus and a client terminal, and a processor configured to receive a report from the sequencing apparatus via the network interface for a sequencing run, and determine whether the sequencing run is designated as a qualification run.

Qualification of sequencing instruments and reagents for use in molecular diagnostic methods

A machine learning system and method for somatic mutation discovery are provided that provides improved identification of tumor-specific mutations. The improved identification of tumor-specific mutations may affect discovery of alterations and therapeutic management of cancer patients.

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Baltimore, MD, United States of America

Samuel V Angiuoli