COMBINED SIZE-AND COUNT-BASED ANALYSIS OF MATERNAL PLASMA FOR DETECTION OF FETAL SUBCHROMOSOMAL ABERRATIONS

Title:

COMBINED SIZE-AND COUNT-BASED ANALYSIS OF MATERNAL PLASMA FOR DETECTION OF FETAL SUBCHROMOSOMAL ABERRATIONS

Document Type and Number:

WIPO Patent Application WO/2016/116033

Kind Code:

A1

Abstract:

An aberration in a fetal genome can be identified by analyzing a sample of fetal and maternal DNA. Classifications of whether an aberration (amplification or deletion) exists in a subchromosomal region are determined using count-based and size-based methods. The count classification and the size classification can be used in combination to determine whether only the fetus or only the mother, or both, have the aberration in the subchromosomal region, thereby avoiding false positives when the mother has the aberration and the fetus does not.

Inventors:

LO YUK-MING DENNIS (CN)
CHIU ROSSA WAI KWUN (CN)
CHAN KWAN CHEE (CN)
JIANG PEIYONG (CN)
YU CHEUK YIN JANDY (CN)

Application Number:

PCT/CN2016/071357

Publication Date:

July 28, 2016

Filing Date:

January 19, 2016

Export Citation:

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Assignee:

UNIV HONG KONG CHINESE (CN)

International Classes:

C12Q1/68; G16B20/10; G16B20/00; G16B20/20; G16B30/00

Domestic Patent References:

WO2009051842A2

2009-04-23

Foreign References:

CN104254618A	2014-12-31
CN103403182A	2013-11-20
CN103003447A	2013-03-27

Other References: