METHOD AND SYSTEM FOR DETERMINING PRESENCE OF TRIPLOIDS IN MALE SAMPLE TO BE TESTED, AND COMPUTER READABLE MEDIUM

WIPO Patent Application WO/2019/227420

A1

A method for determining the presence of triploids in a male sample to be tested. Said method comprises: (1) comparing a sequencing result from the male sample to be tested with a reference sequence, the sequencing result comprising a plurality of sequencing sequences; (2) determining the average sequencing depth of predetermined chromosomes on the basis of the comparison result in step (1), the predetermined chromosomes including a Y chromosome and at least one autosome; (3) determining, for each of said at least one autosome, a ratio of the average sequencing depth of the autosome to the average sequencing depth of the Y chromosome, and marking same as DRi, i representing the serial number of the chromosome; and (4) determining, on the basis of the DRi obtained in step (3), the presence of the triploids in the male sample to be tested.

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CHAI XIANGHUA (CN)
WANG JUN (CN)
LI JIALIN (CN)
WANG YUQIU (CN)
CHEN LINA (CN)
YUAN YUYING (CN)
ZHANG HONGYUN (CN)
PENG ZHIYU (CN)
LIU NA (CN)
YIN YE (CN)

PCT/CN2018/089328

December 05, 2019

May 31, 2018

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BGI CLINICAL LABORATORIES SHENZHEN CO LTD (CN)

C12Q1/68

CN104156631A	2014-11-19
CN105074011A	2015-11-18
CN104120181A	2014-10-29
CN105825076A	2016-08-03
US20110003293A1	2011-01-06

TSINGYIHUA INTELLECTUAL PROPERTY LLC (CN)

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