Next-Gen Sequencing

We run the Thermo Ion Torrent S5 to deliver our next generation sequencing service. Whole exome, whole genome, RNA seq, SARS-CoV-2 are all available. We identify and characterise single nucleotide polymorphisms (SNPs), insertion/deletions (indels) and copy number variants (CNVs).

By far the most popular service is the whole exome sequencing service whereby we identify the polymorphisms and compare to reference sequence. Most importantly, we provide interpretation. These data, most often provided for clinical trials, provide an important adjunct data set for the interpretation of pharmacokinetics.

We go that extra mile by including promoter and downstream mutations or other related genes, where relevant and according to the biology and the literature.

We have worked extensively in drug metabolism for many years and bring together expertise in genetic analysis of; phase I (the Cytochrome p450 enzymes), phase II (conjugation) and phase III (transportation) – the key steps ion detoxication of drugs and metabolites.

An NGS solution is more expensive than a targeted genotyping approach, but it gives us a great deal more information and when we are helping you to explain unusual pharmacokinetics for example, it is the methods of choice, because there is less chance of missing a polymorphism.

We bring a range of techniques to bear on a genetic analysis, not just NGS. We might need Sanger sequencing (confirmatory sequencing of difficult to sequence regions for example), digital PCR or TaqMan.