CN112639129A - 确定新发突变在胚胎中的遗传状态的方法和装置 - Google Patents

确定新发突变在胚胎中的遗传状态的方法和装置 Download PDF

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CN112639129A
CN112639129A CN201880097162.8A CN201880097162A CN112639129A CN 112639129 A CN112639129 A CN 112639129A CN 201880097162 A CN201880097162 A CN 201880097162A CN 112639129 A CN112639129 A CN 112639129A
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embryo
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new mutation
mutation
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殷旭阳
陈大洋
刘萍
谢林
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Abstract

一种确定新发突变在胚胎中的遗传状态的方法和装置，方法包括：获取胚胎的父母双方的全基因组测序数据，并对全基因组测序数据进行分析以确定父母双方中至少一方的新发突变；在新发突变附近寻找已知的参照遗传标记，并确定新发突变与参照遗传标记的连锁遗传关系；获取胚胎的全基因组测序数据，并检测胚胎的全基因组测序数据中的参照遗传标记；和根据连锁遗传关系和胚胎中参照遗传标记的检测结果，确定新发突变在胚胎中的遗传状态。上述方法利用新发突变位点附近区域的参照遗传标记位点，通过确定新发突变位点与参照遗传标记位点的连锁遗传关系，确定新发突变在胚胎中的遗传状态，能够实现新发突变的检测。

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PCT国内申请，说明书已公开。

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  1. PCT国内申请，权利要求书已公开。
CN201880097162.8A 2018-09-03 2018-09-03 确定新发突变在胚胎中的遗传状态的方法和装置 Pending CN112639129A (zh)

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* Cited by examiner, † Cited by third party
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CN113345515A (zh) * 2021-06-17 2021-09-03 苏州贝康医疗器械有限公司 新发平衡易位家系中胚胎遗传性检测方法及装置
CN113628681A (zh) * 2021-07-21 2021-11-09 哈尔滨星云医学检验所有限公司 一种基于家系denovo突变的分析方法及其应用

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* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113345515A (zh) * 2021-06-17 2021-09-03 苏州贝康医疗器械有限公司 新发平衡易位家系中胚胎遗传性检测方法及装置
CN113345515B (zh) * 2021-06-17 2024-05-31 苏州贝康医疗器械有限公司 新发平衡易位家系中胚胎遗传性检测方法及装置
CN113628681A (zh) * 2021-07-21 2021-11-09 哈尔滨星云医学检验所有限公司 一种基于家系denovo突变的分析方法及其应用

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