A method for analysis of transcriptional aberrations and molecular diagnostic of genetic diseases includes receiving ribonucleic acid, RNA, related data; calculating a probability λt of an error-free splicing for a coding transcript t based on the RNA data; calculating the count-per-million (CPM) normalized xt for the coding transcript t based on the RNA data; calculating an omega index based on a product of the probability λt and the CPM normalized xt for a gene g of the human genome; and determining that the gene g is a candidate for a genetic disorder.
RNA-SEQ QUANTIFICATION METHOD FOR ANALYSIS OF TRANSCRIPTIONAL ABERRATIONS