An RNA-seq quantification method for analysis of transcriptional aberrations

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 that omega can improve the signal to detect genes with deleterious transcriptional aberrations and drastically reduce the disease-gene search space.