首页> 外国专利> SYSTEMS AND METHODS FOR DETERMINING CONSENSUS BASE CALLS IN NUCLEIC ACID SEQUENCING

SYSTEMS AND METHODS FOR DETERMINING CONSENSUS BASE CALLS IN NUCLEIC ACID SEQUENCING

机译:用于确定核酸测序中的共识底座呼叫的系统和方法

摘要

Systems and methods for determining consensus base calls in nucleic acid sequencing are provided. A sequencing dataset is obtained corresponding to a plurality of base reads for a first base position within a plurality of base positions of a target nucleic acid molecule. The sequencing dataset includes at least two features, for each base read of the plurality of base reads. The at least two features are selected from among the features: a nucleotide base, a read quality score, a strand identifier, a trinucleotide context of the base read, and a confidence score associated with the trinucleotide context. The sequencing dataset is transformed into a feature tensor representing a distribution of the plurality of features in the sequencing dataset. The feature tensor is assessed with a classifier to determine a consensus base call for the first base position. The consensus base call comprises a predicted nucleotide base.
机译:提供了用于确定核酸测序中的共识底座呼叫的系统和方法。对应于对应于靶核酸分子的多个基位置内的第一碱位置的多个碱基读取的测序数据集。排序数据集包括至少两个特征,用于多个基本读取的每个基础。从特征中选择至少两个特征:核苷酸基础,读取质量评分,链标识符,基础读取的三核苷酸背景,以及与三核苷酸背景相关的置信度评分。测序数据集被转换为表示测序数据集中的多个特征的分布的特征张量。用分类器评估特征张量以确定对第一基本位置的共识基础呼叫。共有碱基呼叫包括预测的核苷酸基础。

著录项

  • 公开/公告号WO2021041840A1

    专利类型

  • 公开/公告日2021-03-04

    原文格式PDF

  • 申请/专利权人 GRAIL INC.;

    申请/专利号WO2020US48448

  • 申请日2020-08-28

  • 分类号C12Q1/6806;C12Q1/6869;G16B30/20;G16B20/20;

  • 国家 US

  • 入库时间 2022-08-24 17:32:05

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