In the complex drug discovery process, one of the looming questions for any new compound is how it will be metabolised in a human body. While there are several methods for evaluating this, one of the most common involves CYP2D6, the enzyme encoded by the cytochrome P450-2D6 gene.
RNA-seq has revolutionised how scientists can interrogate gene expression. But after years of performing RNA-seq studies with short-read sequencers, many have realised that there is more to be discovered.
Next-generation sequencing has expanded the frontiers of genomic research, opening up new avenues of enquiry and offering insights into diverse areas of biology. Rapid developments in this field are dramatically lowering costs and increasing speeds. With the arrival of third generation sequencing, this continually evolving technology is now being applied within clinical environments, where it has the potential to improve diagnosis and treatment outcomes of diseases such as cancer.
Genomics has revolutionised the life sciences industry by combining human ingenuity with right-place/right-time serendipity. Advances in computer processing and storage have provided the bandwidth and throughput to enable the visionary science imagined by those pioneering the Human Genome Project. The revolution continues today. No other industry has seen processing speeds rise and costs drop as dramatically as genomics (Figure 1). And with next-generation sequencing (NGS) providing the ability to sequence entire genomes in less than a day for pennies per base pair, organisations are now wondering how they will handle the data these techniques generate
While next-generation sequencing has revolutionised the way genomes are sequenced, this technology possesses a fundamental weakness – the inability to easily target specific regions of a genome. To address this, a method has been developed that uses biotinylated RNA ‘baits’ to fish targets out of a ‘pond’ of DNA fragments.
Generation II DNA sequencing has been widely heralded as a disruptive technology, generating tens of millions of random short sequences at efficiencies up to 20,000-fold greater than Generation I (Sanger) sequencing.
Human genetics is the foundation of disease as well as the response to pharmaceutical agents. Today, promising drugs are abandoned due to the lack of significant efficacy in broad patient populations. Recently, blockbuster drugs have been removed from the market due to unexplained toxicity not revealed in clinical trials.