Title:
METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS
Document Type and Number:
Japanese Patent JP2017099419
Kind Code:
A
Abstract:
PROBLEM TO BE SOLVED: To provide methods and processes for non-invasive evaluation of genetic variation.SOLUTION: The present invention provides a method for detecting the presence or absence of a segmental chromosomal aberration or a fetal aneuploidy or both including: (a) obtaining from a test subject a sample including circulating cell-free nucleic acid; (b) isolating cell-free sample nucleic acid from the sample; (c) obtaining sequence reads from the cell-free sample nucleic acid; (d) mapping the sequence reads obtained in (c) to a known genome divided into genomic sections; (e) counting the mapped sequence reads within the genomic sections; (f) generating a sample normalized count profile by normalizing the counts for the genomic sections obtained in (e); and (g) determining the presence or absence of a segmental chromosomal aberration or a fetal aneuploidy or both from the sample normalized count profile in (f).SELECTED DRAWING: None
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Inventors:
COSMIN DECIU
ZELJKO DZAKULA
MATHIAS EHRICH
KIM SUNG KYUN
ZELJKO DZAKULA
MATHIAS EHRICH
KIM SUNG KYUN
Application Number:
JP2017045068A
Publication Date:
June 08, 2017
Filing Date:
March 09, 2017
Export Citation:
Assignee:
SEQUENOM INC
International Classes:
C12M1/00; G16B20/20; C12M1/34; C12N15/09; C12Q1/68; G16B30/10; G16B30/20; G16B40/00; G16B20/10
Foreign References:
| US20110177517A1 | 2011-07-21 | |||
| US20110151442A1 | 2011-06-23 | |||
| US20100112575A1 | 2010-05-06 |
Other References:
T. CHU ET AL: "Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of", BIOINFORMATICS (2009) 25 (10), JPN7016002330, 23 March 2009 (2009-03-23), pages 1244 - 1250, ISSN: 0003679143
H. CHRISTINA FAN ET AL: "Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun", PLOS ONE 2010 5(5) E10439, JPN6016030462, 3 March 2010 (2010-03-03), pages 1 - 7, ISSN: 0003679144
CAN ALKAN ET AL: "Personalized copy number and segmental duplication maps using next-generation sequencing", NATURE GENETICS 41, JPN6016030464, 30 August 2009 (2009-08-30), pages 1061 - 1067, ISSN: 0003679145
H. CHRISTINA FAN ET AL: "Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun", PLOS ONE 2010 5(5) E10439, JPN6016030462, 3 March 2010 (2010-03-03), pages 1 - 7, ISSN: 0003679144
CAN ALKAN ET AL: "Personalized copy number and segmental duplication maps using next-generation sequencing", NATURE GENETICS 41, JPN6016030464, 30 August 2009 (2009-08-30), pages 1061 - 1067, ISSN: 0003679145
Attorney, Agent or Firm:
Hidesaku Yamamoto
Natsuki Morishita
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto
Natsuki Morishita
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto