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Allelotyping Methods for Massively Parallel Sequencing

机译:大规模并行测序的化分方法

摘要

In one illustrative embodiment, an allelotyping method may include selecting a plurality of text strings that each represent a nucleotide sequence that was read by a massively parallel sequencing (MPS) instrument, where the nucleotide sequences represented by the selected plurality of text strings each correspond to a particular locus, comparing the selected plurality of text strings to one another to determine an abundance count for each unique text string included in the selected plurality of text strings, and determining one or more alleles for the particular locus by comparing the abundance count for each unique text string included in the selected plurality of text strings to an abundance threshold.
机译:在一个说明性实施方案中,变型方法可以包括选择多个文本串,每个文本串代表由大规模并行测序(MPS)仪器读取的核苷酸序列,其中由所选择的多个文本串表示的核苷酸序列各自对应于一个特定的基因座,将选择的多个文本串相互比较,以确定包括在选择的多个文本串中的每个唯一文本串的丰度计数,并通过比较每个基因座的丰度计数,确定特定基因座的一个或多个等位基因包含在所选多个文本字符串中的唯一文本字符串达到丰度阈值。

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