HAPLOTYPE CONSTRUCTION METHOD INDEPENDENT OF PROBAND

WIPO Patent Application WO/2024/027569

A1

Disclosed is a haplotype construction method independent of a proband, comprising: performing long fragment sequencing on a DNA sample of one of pathogenic variation carrier parents in a couple; performing whole genome analysis on sequencing data of the pathogenic variation carrier parent to obtain genotype information of the pathogenic variation; screening heterozygous SNPs in the pathogenic variation carrier parent; gathering the heterozygous SNPs for whole genome assembly and typing; according to assembly information of the long fragment where the pathogenic variation is located, obtaining a typing result of the pathogenic variation site; and marking the haplotype of the pathogenic variation carrier parent according to the typing result of the pathogenic site, and constructing a pathogenic/normal haplotype of the pathogenic variation carrier parent. In the present application, only a pathogenic chromosome variation carrier is subjected to long fragment sequencing, and a haplotype of the carrier is constructed. The method can be effectively applied to genetic screening, and accurate haplotyping of the whole chromosome can be realized by means of the SNP interlocking analysis and correction of embryos.

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XU RUIXIA (CN)
GU MENGNAN (CN)
SHAN WENQI (CN)
YANG YUYAN (CN)
KONG LINGYIN (CN)
LIANG BO (CN)

PCT/CN2023/109731

February 08, 2024

July 28, 2023

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SUZHOU BASECARE MEDICAL DEVICE CO LTD (CN)

G16B20/30

WO2021232388A1	2021-11-25
WO2019144425A1	2019-08-01

CN114999570A	2022-09-02
CN108866172A	2018-11-23
CN113345518A	2021-09-03
CN113436680A	2021-09-24

ZHANG ZHIQIANG, KANG KAI, XU LINAN, LI XIAOLAN, HE SHUJING, XU RUIXIA, JIA LEI, ZHANG SHIHUI, SU WENLONG, SUN PENG, GU MENGNAN, SH: "The Application of a Novel Haplotyping Method in Preimplantation Genetic Testing", THE LANCET, 17 July 2023 (2023-07-17), pages 1 - 12, XP093136202, DOI: 10.2139/ssrn.4509977
WU HAITAO; CHEN DONGJIA; ZHAO QIANG; SHEN XIAOTING; LIAO YONGBIN; LI PING; CHIU PHILIP C. N.; ZHOU CANQUAN: "Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia", JOURNAL OF ASSISTED REPRODUCTION AND GENETICS., PLENUM PUBLISHING., US, vol. 39, no. 3, 9 February 2022 (2022-02-09), US , pages 739 - 746, XP037808669, ISSN: 1058-0468, DOI: 10.1007/s10815-022-02415-1
LI QING, MAO YAN, LI SHAOYING, DU HONGZI, HE WENZHI, HE JIANCHUN, KONG LINGYIN, ZHANG JUN, LIANG BO, LIU JIANQIAO: "Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives", BMC MEDICAL GENOMICS, vol. 13, no. 1, 1 December 2020 (2020-12-01), pages 117, XP093136189, DOI: 10.1186/s12920-020-00766-1
HANXIAO DU, LU DARU: "Research and Outlook for Noninvasive Prenatal Testing for Monogenic Diseases", CHINESE JOURNAL OF CLINICAL LABORATORY SCIENCE, vol. 36, no. 11, 28 November 2018 (2018-11-28), pages 805 - 808, XP093136192

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