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Early DNA Analysis Using Incomplete DNA Datasets

机译:使用不完整的DNA数据集进行早期DNA分析

摘要

A method of analyzing sequencing data associated with a sample is disclosed. The method comprises receiving by a computer system a plurality of sequencing reads while a sequencing assay is in progress of sequencing the sequencing reads, wherein at least some of the sequencing reads are incomplete sequencing reads, wherein the incomplete sequencing reads are sequencing reads for which only a part of the base pairs of the sequencing read have been determined by the sequencing assay, and the missing base pairs are still in the process of being determined by the sequencing assay. Further, mapping by the computer system the plurality of sequencing reads to a reference sequence. Further, predicting at least some of the missing base pairs and quality values of an incomplete sequencing read based on available base pair information of the sequencing reads and applying the predicted base pairs and quality values to the sequencing read.
机译:公开了一种分析与样品相关的测序数据的方法。该方法包括在测序测序进行中的测序测定进行时,由计算机系统接收多个测序读段,其中至少一些测序读段是不完整的测序读段,其中不完整的测序读段是仅针对其的测序读段测序读数的一部分碱基对已通过测序测定法确定,而缺失的碱基对仍在通过测序测定法确定的过程中。此外,通过计算机系统将多个测序读段映射到参考序列。此外,基于测序读数的可用碱基对信息,预测不完整测序读数的至少一些缺失的碱基对和质量值,并将预测的碱基对和质量值应用于测序读数。

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