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COMPUTATIONAL MODELING OF LOSS OF FUNCTION BASED ON ALLELIC FREQUENCY

机译:基于等位基因频率的函数损失计算建模

摘要

The disclosure relates to computer technology for precision diagnosis of various states of genetic material such as a gene sequenced from cell-free DNA in a sample. The state may include a somatic homozygous deletion, a somatic heterozygous deletion, a copy number variation, or other states. A computer system may generate competing probabilistic models that each output a probability that the genetic material is in a certain state. Each model may be trained on a training sample set to output a probability that the genetic material is in a respective state. In some embodiments, the computer system may use various probabilistic distributions to generate the models. For example, the computer system may use a beta-binomial distribution, a binomial distribution, a normal (also referred to as “Gaussian”) distribution, or other type of probabilistic modeling techniques.
机译:本公开涉及用于精确诊断各种遗传物质状态的计算机技术,例如从样品中无细胞DNA测序的基因。 该状态可包括体细胞纯合缺失,细胞杂合缺失,拷贝数变异或其他状态。 计算机系统可以产生竞争概率模型,每个模型各自输出遗传材料处于某种状态的概率。 每个模型可以训练在训练样本集上以输出遗传材料处于相应状态的概率。 在一些实施例中,计算机系统可以使用各种概率分布来生成模型。 例如,计算机系统可以使用β-二项式分布,二项式分布,正常(也称为“高斯”)分布,或其他类型的概率建模技术。

著录项

  • 公开/公告号EP3931831A1

    专利类型

  • 公开/公告日2022-01-05

    原文格式PDF

  • 申请/专利权人 GUARDANT HEALTH INC.;

    申请/专利号EP20200714778

  • 申请日2020-02-27

  • 分类号G16B20/20;G16H50/20;C12Q1/6886;

  • 国家 EP

  • 入库时间 2022-08-24 23:13:28

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