CN115052994A - 确定胚胎细胞染色体中预定位点碱基类型的方法及其应用 - Google Patents

确定胚胎细胞染色体中预定位点碱基类型的方法及其应用 Download PDF

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CN115052994A
CN115052994A CN202080095705.XA CN202080095705A CN115052994A CN 115052994 A CN115052994 A CN 115052994A CN 202080095705 A CN202080095705 A CN 202080095705A CN 115052994 A CN115052994 A CN 115052994A
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determining
embryonic
sequencing
haplotype
embryo
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夏军
程小芳
刘萍
陈丹
曹磊
严会娟
邹艳
龙舟
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MGI Tech Co Ltd
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Abstract

本发明提供了确定胚胎细胞染色体中预定位点碱基类型的方法。该确定胚胎细胞染色体中预定位点碱基类型的方法包括：(1)基于所述胚胎亲本的测序结果，确定所述预定位点的连锁单倍体型区块，所述连锁单倍体型区块包括所述预定位点以及所述预定位点连锁位点在所述亲本中的碱基类型；(2)基于所述胚胎细胞的测序结果，确定所述胚胎基因组至少一部分的序列信息，所述胚胎基因组至少一部分包括所述预定位点；和(3)基于所述预定位点的所述连锁单倍体型区块，对所述胚胎细胞中所述预定位点的碱基类型进行校正，以便获得所述预定位点的碱基类型；(4)基于所述胚胎细胞的测序结果，确定所述胚胎基因组是否存在染色体异常。

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PCT国内申请，说明书已公开。

Claims (12)

  1. PCT国内申请，权利要求书已公开。
CN202080095705.XA 2020-05-22 2020-05-22 确定胚胎细胞染色体中预定位点碱基类型的方法及其应用 Pending CN115052994A (zh)

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CN114999570B (zh) * 2022-08-05 2023-06-23 苏州贝康医疗器械有限公司 一种不依赖于先证者的单体型构建方法
CN115631789B (zh) * 2022-10-25 2023-08-15 哈尔滨工业大学 一种基于泛基因组的群体联合变异检测方法
CN116343919B (zh) * 2023-04-11 2023-12-08 天津大学四川创新研究院 一种全基因组图谱绘制测序方法
CN116646010B (zh) * 2023-07-27 2024-03-29 深圳赛陆医疗科技有限公司 人源性病毒检测方法及装置、设备、存储介质
CN117116344A (zh) * 2023-10-25 2023-11-24 北京大学第三医院（北京大学第三临床医学院） 一种单细胞水平pmp22重复变异的检测系统和方法

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CN105051208B (zh) * 2013-03-28 2017-04-19 深圳华大基因股份有限公司 确定胚胎基因组中预定区域碱基信息的方法、系统和计算机可读介质
WO2019051812A1 (zh) * 2017-09-15 2019-03-21 深圳华大智造科技有限公司 确定预定染色体保守区域的方法、确定样本基因组中是否存在拷贝数变异的方法、系统和计算机可读介质
CN110628891B (zh) * 2018-06-25 2024-01-09 深圳华大智造科技股份有限公司 一种对胚胎进行基因异常筛查的方法
CN110021351B (zh) * 2018-07-19 2023-04-28 深圳华大生命科学研究院 分析碱基连锁强度以及基因分型方法和系统

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