Patent · US Active

Methods for non-invasive assessment of copy number alterations

US11929143B2 · kind B2 · utility

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17Claims
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Assignee

Inventors

Key dates

Filing dateJan 22, 2018
Grant dateMar 12, 2024
Priority date
Expiry dateMar 9, 2041

Classification

  • Technology area (CPC G)Physics
  • CPC primaryG16B40/00
  • WIPO fieldComputer technology
  • WIPO sectorElectrical engineering

Abstract

Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of copy number alterations. In particular, a method is provided for determining presence or absence of a copy number alteration for a test subject. The method includes providing a set of sequence reads. The sequence reads may be obtained from circulating cell free sample nucleic acid from a test sample obtained from the test subject, and the circulating cell free sample nucleic acid may be captured by probe oligonucleotides under hybridization conditions. The method further includes determining a probe coverage quantification of the sequence reads for the probe oligonucleotides and determining the presence or absence of a copy number alteration in the circulating cell free sample nucleic acid based on the probe coverage quantification of the sequence reads for the probe oligonucleotides for the test sample.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.