NGS: hunting mysterious ‘Dark Matter Genome’ towards rewriting the rules of human genetic diseases

Next generation sequencing (NGS) has revolutionised genomics research providing a wealth of genetic information of immense value to researchers. NGS technologies have been evolving over the last decade, leading to substantial improvement in understanding different biological systems from broader and deeper perspectives.1

genetic imaging

Contemporary advances in high throughput DNA sequencing technologies have ultimately enabled investigations into the entire genome and specific regions of interest, thus providing accurate in-depth genomic information and biological insight into unexpected DNA changes.2 In recent years, several NGS platforms with different sequencing chemistries have been developed that can perform sequencing of millions of smaller DNA fragments in parallel. With the advent of NGS technology, human genomes can now be systematically studied in their entirety at a much faster pace and cheaper cost. Sequencing of the human genome provides many benefits including more accurate diagnosis, prognosis and classification of diseases. It also offers attractive ways to identify ‘druggable’ casual mutations and other genetic variations, such as substitutions, insertions, deletions, inversions and translocation that could serve as an underlying cause for many human genetic diseases.3

Deciphering the genetic information encoded by the human genome is paramount in biomedical research. Extensive investigation into genetic mutations that cause human diseases has uncovered that the disease-causing mutations occur within 1-2% of protein-coding DNA called ‘exons’. The remaining 98% of the genome constitutes ‘dark matter’ whose function remains unclear. Interpreting the effect of DNA changes within genomic dark matter is very difficult.4

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