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1. (WO2018183723) DEVICES, PROCESSES, AND SYSTEMS FOR DETERMINATION OF NUCLEIC ACID SEQUENCE, EXPRESSION, COPY NUMBER, OR METHYLATION CHANGES USING COMBINED NUCLEASE, LIGASE, POLYMERASE, AND SEQUENCING REACTIONS

Pub. No.:    WO/2018/183723    International Application No.:    PCT/US2018/025213
Publication Date: Fri Oct 05 01:59:59 CEST 2018 International Filing Date: Fri Mar 30 01:59:59 CEST 2018
IPC: B01F 13/00
B01L 3/00
C12M 1/00
C12M 1/34
C12M 1/40
Applicants: CORNELL UNIVERSITY
Inventors: BARANY, Francis
Title: DEVICES, PROCESSES, AND SYSTEMS FOR DETERMINATION OF NUCLEIC ACID SEQUENCE, EXPRESSION, COPY NUMBER, OR METHYLATION CHANGES USING COMBINED NUCLEASE, LIGASE, POLYMERASE, AND SEQUENCING REACTIONS
Abstract:
The present invention relates to methods, devices, instruments, processes, and systems for the highly specific, targeted molecular analysis of regions of human genomes and transcriptomes from the blood, i.e. from cell free circulating DNA, exosomes, microRNA, IncRNA, circulating tumor cells, or total blood cells. The technology enables highly sensitive identification and enumeration of mutation, expression, copy number, translocation, alternative splicing, and methylation changes using spatial multiplexing and combined nuclease, ligation, polymerase, and sequencing reactions. Such technology may be used for non-invasive early detection of cancer, non-invasive cancer prognosis, and monitoring both treatment efficacy and disease recurrence of cancer.