公开(公告)号：WO2020146253A1

公开(公告)日：2020-07-16

申请号：PCT/US2020/012354

申请日：2020-01-06

Applicant: PERSONAL GENOME DIAGNOSTICS INC.

Inventor： ANGIUOLI, Samuel, V. ,  RILEY, David

IPC: G16B30/00 ,  G16B99/00 ,  G06F11/30

Abstract: The present disclosure provides a system and methods for receive a report from the diagnostic apparatus via the network interface for a testing parameter, the report comprising an identifier of a diagnostic apparatus generating the report, an identifier of a reagent used in the testing parameter, an identifier of software installed in the diagnostic apparatus, and a result of a testing parameter; determine whether the testing parameter is designated as a qualification run; when it is determined that the testing parameter is designated as a qualification run, the processor is further configured to: determine whether the software installed in the diagnostic apparatus is approved software by comparing the identifier of the software in the report with identifiers in memory, wherein when the software installed in the diagnostic apparatus is not approved, the associated status for the diagnostic apparatus is unqualified; examine the result of the testing parameter to determine whether the diagnostic apparatus or the reagent is qualified; and update the associated status. Embodiements also relate to a sequencing apparatus.

公开(公告)号：WO2019125864A1

公开(公告)日：2019-06-27

申请号：PCT/US2018/065202

申请日：2018-12-12

Applicant: PERSONAL GENOME DIAGNOSTICS INC.

Inventor： ANGIUOLI, Samuel, V. ,  WOOD, Derrick

IPC: C12Q1/6886 ,  G16Z99/00

CPC classification number: G16B20/20 ,  G16B40/20

Abstract: 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.