Gene-Specific RNA Sequencing Targeted Analysis

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The initial product of genome expression is the transcriptome. A transcriptome represents that small percentage of the genetic code that is transcribed into RNA molecules estimated to be less than 5% of the genome in humans. In addition, each gene may produce more than one variant of mRNA because of alternative splicing, RNA editing, or alternative transcription initiation and termination sites. An RNA sequence mirrors the sequence of the DNA from which it was transcribed. Consequently, by analyzing RNA sequences in a cell (the transcriptome) we can determine when and where each gene is turned on or off in the cells and tissues. It is possible to count the number of transcripts to determine the amount of gene activity - also called gene expression - in a certain tissue type. Genetic diseases are mainly diagnosed by next generation sequencing; single gene testing, a panel of genes, or whole exome analysis. By doing these tests, not always the causative pathogenic variant is identified and many variants of unknown significance (VUS) may be reported, leaving patients with unclear results. Variants unclassified, falling into the categories of missense, silent, and splice site variants where there is no functional evidence, as well as loss-of-function changes in new genes where there is no proven disease mechanism. To help characterize their function and potentially reclassify VUSs as disease-causing variants - transcriptome sequencing is offered. Through transcriptome analysis can be proven that there is an effect on the transcript, causing a splice site defect, an inclusion of a pseudo-exon, exclusion of a real exon or loss of expression of the gene.

Next-Generation Sequencing

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