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Updated: Jul 11, 2025

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使用基于k-mer的测序错误配置文件进行基因检测

Hufsah Ashraf1,2, Jana Ebler1,2, Tobias Marschall1,2

  • 1Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany.

Bioinformatics advances
|November 6, 2023
PubMed
概括

K-merald通过建模测序错误来提高基因组变异调用的等位基因检测准确度. 这种方法提高了基因型的性能,特别是对于长时间的测序读取和低覆盖率的数据.

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