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通过FRASER 2.0和内射雅卡德指数改进了异常拼接的检测

Ines F Scheller1, Karoline Lutz2, Christian Mertes3

  • 1School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany; Computational Health Center, Helmholtz Center Munich, 85764 Neuherberg, Germany.

American journal of human genetics
|November 25, 2023
PubMed
概括

FRASER 2.0通过改进异常拼接检测,提高了罕见疾病诊断,并使用了新的内杰卡德指数来改进检测. 这种精细的方法显著降低了拼接异常值和测序深度效应,以便更准确的RNA-seq分析.

关键词:
这是一种异常的拼接.在RNA-seqqq.异常标志的检测异常标志的检测罕见病是一种罕见的疾病.罕见疾病诊断 罕见疾病诊断罕见的变种 罕见的变种

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