METHOD AND DEVICE FOR DETECTING CHROMOSOMAL ANEUPLOIDY

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United States of America Patent

APP PUB NO 20160154931A1
SERIAL NO

14905617

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Abstract

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A method and a device for detecting chromosomal aneuploidy are provided. The method includes: obtaining the distribution of the sequencing result of test samples on a reference sequence, i.e., the number of sequence reads falling within each window divided on the reference sequence, wherein the test samples comprise target samples derived from target individuals and control samples derived from normal individuals; calculating the deviation statistic of each target sample in each window; comparing the average value of the deviation statistics on a certain chromosome of the target samples with a corresponding deviation threshold, and determining whether there is a deletion or duplication in the chromosome according to the comparison results, wherein the deviation threshold is set according to the deviation statistics of all normal individuals on the chromosome.

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Patent Owner(s)

Patent OwnerAddress
BGI GENOMICS CO LIMITEDGUANGDONG 518083

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
CHEN, Fang Shenzhen, CN 221 1710
CHEN, Shengpei Shenzhen, CN 11 34
JIANG, Haojun Shenzhen, Guangdong Province, CN 6 2
XIE, Weiwei Shenzhen, CN 7 9
ZHANG, Chunlei Shenzhen, Guangdong Province, CN 86 685
ZHENG, Jing Shenzhen, Guangdong Province, CN 73 849

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