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.
Patent No.:
Date of Patent:
May. 11, 2021
Filed:
May. 15, 2013
Bgi Genomics Co., Ltd., Shenzhen, CN;
Chuanchun Yang, Shenzhen, CN;
BGI GENOMICS CO., LTD., Shenzhen, CN;
Abstract
A method and a device for detecting chromosomal structural abnormalities are provided. The method includes acquiring a whole genome sequencing result of a target individual, that is, multiple pairs of Reads located at two ends of chromosome fragments are determined; aligning the sequencing result with a reference sequence to obtain an abnormal match set, which includes Read pairs that have two Read sequences matched respectively to different chromosomes of the reference sequence; clustering the Read sequences in the abnormal match set based on the positions matched thereto; and filtering the resultant clusters by using, for example, preset requirements associated with compactness and others, and obtaining the filtered result, clusters, for determining the occurrence of translocation-type chromosomal structural abnormity.