Article

An RNA-seq quantification method for analysis of transcriptional aberrations

2019-09-12

Abstract excerpt

Transcriptome level analysis has been shown to have the great potential for clinical utility. Here, we introduce omega, a between-sample RNA-seq quantification to estimate the abundance level of functional mRNAs which is suitable for analysis of transcriptional aberrations and molecular diagnostics of a range of genetic diseases. By using five diagnosed cases of Mendelian diseases as a case study, we show evidence...

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Literature Corpus work: cc78dda1-eaa7-5d3f-bcad-bdbf9a36b588
DOI: 10.1101/766121

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