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CN111919256A - 检测染色体非整倍性的方法、装置及系统 - Google Patents

检测染色体非整倍性的方法、装置及系统 Download PDF

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CN111919256A
CN111919256A CN201880091839.7A CN201880091839A CN111919256A CN 111919256 A CN111919256 A CN 111919256A CN 201880091839 A CN201880091839 A CN 201880091839A CN 111919256 A CN111919256 A CN 111919256A
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window
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chromosome
sequencing
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CN111919256B (zh
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曾立董
吴增丁
金欢
徐伟彬
李林森
赵陆洋
张萌
颜钦
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Genemind Biosciences Co Ltd
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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Abstract

一种检测染色体非整倍性的方法、装置及系统。方法包括：对待测样本中的至少一部分核酸进行测序，获得包括读段的测序结果；将读段比对到参考序列，获得比对结果，比对结果包括读段定位于具体染色体的信息；对比对结果进行过滤，包括过滤掉比对结果中定位于参考序列上比对能力非为1的区域的读段，定义参考序列中定位到参考序列唯一位置的区域的比对能力为1；对于第一染色体，基于比对结果，确定定位到该第一染色体的读段的量；比较定位到该第一染色体的读段的量与阴性样本中的定位到相应第一染色体的读段的量，以判定该第一染色体的数目。

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PCT国内申请，说明书已公开。

Claims (34)

  1. PCT国内申请，权利要求书已公开。
CN201880091839.7A 2018-05-07 2018-05-07 检测染色体非整倍性的方法、装置及系统 Active CN111919256B (zh)

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Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN117106870A (zh) * 2022-12-30 2023-11-24 深圳市真迈生物科技有限公司 胎儿浓度的确定方法及装置

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN111724858B (zh) * 2020-05-14 2024-06-07 东北林业大学 利用软件运行基因组序列比对修补gap的方法
CN113593629B (zh) * 2021-06-29 2024-02-13 广东博奥医学检验所有限公司 基于半导体测序的降低无创产前检测假阳性假阴性的方法
CN113990393B (zh) * 2021-12-28 2022-04-22 北京优迅医疗器械有限公司 基因检测用数据处理方法、装置和电子设备
CN114582427B (zh) * 2022-03-22 2023-04-07 成都基因汇科技有限公司 一种渐渗区段鉴定方法及计算机可读存储介质
CN114792548B (zh) * 2022-06-14 2022-09-09 北京贝瑞和康生物技术有限公司 校正测序数据、检测拷贝数变异的方法、设备和介质
CN118351933B (zh) * 2024-06-18 2024-11-01 安诺优达基因科技(北京)有限公司 对基因组组装错误进行识别的方法和纠错的方法与相关装置

Citations (3)

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Publication number Priority date Publication date Assignee Title
CN105825076A (zh) * 2015-01-08 2016-08-03 北京圣庭生物技术有限公司 消除常染色体内和染色体间gc偏好的方法及检测系统
EP3118323A1 (en) * 2015-07-13 2017-01-18 Cartagenia N.V. System and methodology for the analysis of genomic data obtained from a subject
CN107133495A (zh) * 2017-05-04 2017-09-05 北京医院 一种非整倍性生物信息的分析方法和分析系统

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CN105483229B (zh) * 2015-12-21 2018-10-16 广东腾飞基因科技股份有限公司 一种检测胎儿染色体非整倍体的方法及系统

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN105825076A (zh) * 2015-01-08 2016-08-03 北京圣庭生物技术有限公司 消除常染色体内和染色体间gc偏好的方法及检测系统
EP3118323A1 (en) * 2015-07-13 2017-01-18 Cartagenia N.V. System and methodology for the analysis of genomic data obtained from a subject
CN107133495A (zh) * 2017-05-04 2017-09-05 北京医院 一种非整倍性生物信息的分析方法和分析系统

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN117106870A (zh) * 2022-12-30 2023-11-24 深圳市真迈生物科技有限公司 胎儿浓度的确定方法及装置
CN117106870B (zh) * 2022-12-30 2024-09-13 深圳市真迈生物科技有限公司 胎儿浓度的确定方法及装置

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