首页> 外国专利> method for facilitating the prenatal diagnosis of a genetic disorder from a maternal sample associated with a pregnant woman, method for facilitating the characterization of a medical condition from a sample comprising target molecules and method for quantifying biological target from a sample comprising target molecules

method for facilitating the prenatal diagnosis of a genetic disorder from a maternal sample associated with a pregnant woman, method for facilitating the characterization of a medical condition from a sample comprising target molecules and method for quantifying biological target from a sample comprising target molecules

机译:有助于从与孕妇相关的母亲样本中进行遗传性疾病的产前诊断的方法,有助于从包含靶分子的样品中表征医疗状况的方法以及从包含靶分子的样品中定量生物靶标的方法

摘要

the realizations of a method and / or system may include the generation of a set of molecules associated with the target (for example, peak molecules) associated with one or more biological targets; generating one or more peak mixtures based on processing the set of molecules associated with the target with one or more samples that include the one or more biological targets; performing one or more sanger sequencing operations on one or more peak mixtures; determination of one or more abundance metrics based on the results related to chromatography resulting from one or more sanger sequencing operations; and / or facilitating the characterization of one or more medical conditions based on one or more metrics of abundance.
机译:方法和/或系统的实现可以包括生成与靶标相关的一组分子(例如,峰分子),所述分子与一个或多个生物靶标相关;基于用包含所述一个或多个生物靶标的一个或多个样品处理与所述靶标相关的分子集来产生一个或多个峰混合物;对一种或多种峰混合物进行一种或多种桑格测序操作;根据与一种或多种桑格测序操作产生的色谱相关的结果确定一种或多种丰度指标;和/或有助于根据一种或多种丰度指标来表征一种或多种医疗状况。

著录项

  • 公开/公告号BR112020002260A2

    专利类型

  • 公开/公告日2020-09-08

    原文格式PDF

  • 申请/专利权人 BILLIONTOONE INC.;

    申请/专利号BR20201102260

  • 发明设计人 DAVID TSAO;OGUZHAN ATAY;

    申请日2018-08-06

  • 分类号C12Q1/68;

  • 国家 BR

  • 入库时间 2022-08-21 11:18:20

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