NGS – Diagnomics

Whole Genome Sequencing

Genetic information of the human genome is comprised of billions of nucleotides that has been instrumental in identifying genetic variations and predicting a patient’s risk for a disease, promoting appropriate healthcare decisions. Whole genome sequencing provides genetic information by determining the complete DNA sequence at a single time. Combined with the constant improvement of the technology, this approach will rapidly drop sequencing costs and make whole genome sequencing a powerful tool for genomics research and personalized medicine.

Exome Sequencing (targeted sequencing)

Exome sequencing is a technique that targets the expressed genes, protein-coding regions of the genome, in order to detect exonic variants and discover genetic influences on disease. Exome sequencing is a cost-effective and practical alternative to whole-genome sequencing due to its high yield of relevant variants. It not only identifies variants in the entire genetic population, but also generates a more efficient data set for faster analysis compared to WGS data set.

RNA Sequencing

Also called whole transcriptome shotgun sequencing, RNA sequencing uses next-generation sequencing (NGS) to quantify the amount of RNA in an organism. The technique is used to analyze the continually changing cellular transcriptome by providing the changes of RNA molecules visually. This technique can be used to detect changes in diseases by means of therapeutics and different environmental conditions. It also facilitates the ability to visualize changes in gene expression, alternative gene spliced transcripts, gene fusion, post-translational modifications, mutations, and SNPs.