Title:
USING NUCLEIC ACID SIZE RANGE FOR NONINVASIVE PRENATAL TESTING AND CANCER DETECTION
Document Type and Number:
WIPO Patent Application WO/2019/085988
Kind Code:
A1
Abstract:
Size-band analysis is used to determine whether a chromosomal region exhibits a copy number aberration or an epigenetic alteration. Multiple size ranges may be analyzed instead of focusing on specific sizes. By using multiple size ranges instead of specific sizes, methods may analyze more sequence reads and may be able to determine whether a chromosomal region exhibits a copy number aberration even when clinically-relevant DNA may be a low fraction of the biological sample. Using multiple ranges may allow for the use of all sequence reads from a genomic region, rather than a selected subset of reads in the genomic region. The accuracy of analysis may be increased with higher sensitivity at similar or higher specificity. Analysis may include fewer sequencing reads to achieve the same accuracy, resulting in a more efficient process.
Inventors:
LO YUK-MING DENNIS (CN)
CHIU ROSSA WAI KWUN (CN)
CHAN KWAN CHEE (CN)
JIANG PEIYONG (CN)
CHIU ROSSA WAI KWUN (CN)
CHAN KWAN CHEE (CN)
JIANG PEIYONG (CN)
Application Number:
PCT/CN2018/113640
Publication Date:
May 09, 2019
Filing Date:
November 02, 2018
Export Citation:
Assignee:
UNIV HONG KONG CHINESE (CN)
GRAIL INC (US)
GRAIL INC (US)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2016112850A1 | 2016-07-21 | |||
| WO2016008451A1 | 2016-01-21 | |||
| WO2016116033A1 | 2016-07-28 | |||
| WO2009051842A2 | 2009-04-23 | |||
| WO2014043763A1 | 2014-03-27 | |||
| WO2009013496A1 | 2009-01-29 |
Foreign References:
| CN106886688A | 2017-06-23 | |||
| CN105243295A | 2016-01-13 | |||
| US8620593B2 | 2013-12-31 | |||
| US201313842209A | 2013-03-15 | |||
| US9732390B2 | 2017-08-15 | |||
| US201514803692A | 2015-07-20 | |||
| US20150087529A1 | 2015-03-26 |
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CHAN ET AL., CLIN CHEM, vol. 50, 2004, pages 1002 - 1011
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CHAN ET AL., PROC. NATL. ACAD. SCI., vol. 113, 2016, pages E8159 - E8168
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LI ET AL., BIOINFORMATICS, vol. 25, 2009, pages 1966 - 1967
See also references of EP 3704264A4
LO ET AL., LANCET, vol. 350, 1997, pages 485 - 487
FINNING ET AL., BMJ, vol. 336, 2008, pages 816 - 818
LO ET AL., NENGL J MED, vol. 339, 1998, pages 1734 - 1738
COSTA ET AL., N. ENGL. J. MED., vol. 346, 2002, pages 1502
CHIU ET AL., PROC NATL ACAD SCI USA, vol. 105, 2008, pages 20458 - 20463
FAN ET AL., NATURE, vol. 487, 2012, pages 320 - 324
CHIU ET AL., BMJ, vol. 342, 2011, pages c7401
BIANCHI ET AL., N. ENGL. J. MED., vol. 370, 2014, pages 799 - 808
YU ET AL., PROC. NATL. ACAD. SCI. U. S. A., vol. 111, 2014, pages 8583 - 8
NORTON ET AL., N. ENGL. J. MED., vol. 372, 2015, pages 1589 - 1597
LAM ET AL., CLIN. CHEM., vol. 58, 2012, pages 1467 - 75
LO ET AL., SCI. TRANSL. MED., vol. 2, 2010
MA ET AL., GENE, vol. 544, 2014, pages 252 - 258
NEW ET AL., J. CLIN. ENDOCRINOL. METAB., vol. 99, 2014, pages E1022 - E1030
ALLYSE ET AL., INT. J. WOMENS. HEALTH, vol. 7, 2015, pages 113 - 26
CHANDRASEKHARAN ET AL., SCI TRANSL MED, vol. 6, 2014
CHIU ET AL., BMJ2011, vol. 342, pages c7401
SPARKS ET AL., AM. J. OBSTET. GYNECOL., vol. 206, 2012
JIANG ET AL., BIOINFORMATICS, vol. 28, 2012, pages 2883 - 2890
NPJ GENOMIC MED., vol. 1, 2016, pages 16013
CANICK ET AL., PRENAT. DIAGN., vol. 33, 2013, pages 662 - 666
PORRECO ET AL., AM. J. OBSTET. GYNECOL., vol. 211, 2014
GIL ET AL., FETAL DIAGN. THER., vol. 35, 2014, pages 156 - 73
YARON, PRENAT. DIAGN., vol. 36, 2016, pages 391 - 396
HUDECOVA ET AL., PLOS ONE, vol. 9, 2014, pages e88484
BATZER ET AL., NUCLEIC ACID RES., vol. 19, 1991, pages 5081
OHTSUKA ET AL., J BIOL. CHEM., vol. 260, pages 2605 - 2608
ROSSOLINI ET AL., MOL. CELL. PROBES, vol. 8, 1994, pages 91 - 98
SCHREIBER ET AL., PROC NATL ACAD SCI, vol. 110, 2013, pages 18910 - 18915
FLUSBERG ET AL., NAT METHODS, vol. 7, 2010, pages 461 - 465
PEPE ET AL.: "Limitations of the Odds Ratio in Gauging the Performance of a Diagnostic, Prognostic, or Screening Marker", AM. J. EPIDEMIOL, vol. 159, no. 9, 2004, pages 882 - 890, XP055013965, DOI: 10.1093/aje/kwh101
COOK: "Use and Misuse of the Receiver Operating Characteristic Curve in Risk Prediction", CIRCULATION, vol. 115, 2007, pages 928 - 935
CHAN ET AL., CLIN CHEM, vol. 50, 2004, pages 1002 - 1011
JAMA, vol. 293, 2005, pages 843 - 9
LUN ET AL., PROC. NATL. ACAD. SCI. U. S. A., vol. 105, 2008, pages 19920 - 5
FAN ET AL., CLIN. CHEM., vol. 56, 2010, pages 1279 - 1286
CHAN ET AL., PROC. NATL. ACAD. SCI., vol. 113, 2016, pages E8159 - E8168
WANG ET AL., PRENAT. DIAGN, vol. 33, 2013, pages 662 - 666
JIANG ET AL., PROC. NATL. ACAD. SCI., vol. 112, 2015, pages E1317 - E1325
PROC NATL ACAD SCI USA., vol. 112, no. 11, 17 March 2015 (2015-03-17), pages E1317 - 25
JIANG ET AL., PLOS ONE., vol. 9, no. 6, 2014, pages e100360
YU ET AL., CLIN. CHEM., vol. 63, 2017, pages 495 - 502
CHAN ET AL., PROC. NATL. ACAD. SCI., vol. 111, 2014, pages E5302 - E5311
LI ET AL., BIOINFORMATICS, vol. 25, 2009, pages 1966 - 1967
See also references of EP 3704264A4
Attorney, Agent or Firm:
INSIGHT INTELLECTUAL PROPERTY LIMITED (CN)
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