The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Mar. 05, 2024

Filed:

Feb. 07, 2020
Applicant:

The Chinese University of Hong Kong, Shatin, HK;

Inventors:

Yuk Ming Dennis Lo, Hong Kong, CN;

Kwan Chee Chan, Hong Kong, CN;

Peiyong Jiang, Hong Kong, CN;

Cheuk Yin Jandy Yu, Hong Kong, CN;

Rossa Wai Kwun Chiu, Hong Kong, CN;

Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
G16B 20/10 (2019.01); G16B 20/00 (2019.01); G16B 30/10 (2019.01);
U.S. Cl.
CPC ...
G16B 20/10 (2019.02); G16B 20/00 (2019.02); G16B 30/10 (2019.02);
Abstract

Disclosed herein are methods, systems, and apparatus for detecting microamplifications or microdeletions in the genome of a fetus. In some embodiments, the method comprises receiving sequence tags for each of a plurality of DNA fragments in a biological sample; determining genomic positions for the sequence tags; determining whether the density of DNA in each of a plurality of genomic regions is aberrantly high or low; identifying as a microamplification a set of consecutive genomic regions having aberrantly high density; and identifying as a microdeletion a set of consecutive genomic regions having aberrantly low density. The biological sample may be a blood sample obtained noninvasively from a female subject pregnant with the fetus.


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