Title:
A system and a method for detecting a rare variation and copy number many models
Document Type and Number:
Japanese Patent JP6275145
Kind Code:
B2
Abstract:
The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.
Inventors:
Thalassazu, Amir Ali
El Torquay, Helmy
El Torquay, Helmy
Application Number:
JP2015530152A
Publication Date:
February 07, 2018
Filing Date:
September 04, 2013
Export Citation:
Assignee:
Guardant Health, Incorporated
International Classes:
C12Q1/68; C12M1/00; C12M1/34; C12N15/09; C12P19/34; G16B30/10
Foreign References:
| US20120100548 | ||||
| WO2011155833A1 |
Other References:
SCHMITT, Michael W. et al.,Detection of ultra-rare mutations by next-generation sequencing,PNAS,2012年 8月 1日,Vol.109, no.36,Pages 14508-14513,doi:10.1073/pnas.1208715109
Attorney, Agent or Firm:
Hidesaku Yamamoto
Natsuki Morishita
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto
Natsuki Morishita
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto
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