Oxford Gene Technology (OGT), a molecular genetics company who manufacture custom NGS cancer panels and sequencing reagents, used Horizon’s formalin compromised DNA (fcDNA) Reference Standards to validate their SureSeq™ assay technology.
The NTRK Gene Family
Since the mid-80s, evidence has shown that gene fusions are implicated in cancer. With advances in Next Generation Sequencing (NGS) technology, the impact of gene fusions on driving cancers and how they act as potential therapeutic targets is quickly being revealed.
We all know NGS analysis can be difficult to navigate. Not only is the human genome complex, but technical errors can occur throughout the entire workflow – from sample preparation, through sequencing and during analysis.
Thankfully, these technical errors can be mitigated by using high-quality reference material. Using the best standards for your assay will help both calibrate your NGS measurements and evaluate your diagnostic performance.
With advances in affordable technologies, there is now a multitude of reference types to choose from including patient material, cell line-derived standards and synthetic spike-ins. In this blog, we shine the spotlight on cell line-derived standards and the distinct advantages these have when used for NGS oncology assays.
We all know how vital quality control is for our samples. A lot of research has gone in to developing useful QC metrics for genomics experiments – primarily due to their high cost. Skipping this step will waste both time and money.
There are 3 main areas where QC can be applied to NGS:
- On the starting nucleic acids
- After Library preparation
With new advances in technology, we’re now moving more towards large panel Next-Generation Sequencing (NGS) assays and whole exome (WES) and genome sequencing. NGS is gaining popularity thanks to the high-throughput capability and lower cost per sample.
However, validating these complex assays can be tricky, so we’ve compiled some top tips from industry guidelines* to help you...
Liquid biopsies are becoming increasingly popular in cancer research. We take a look at their potential impact in the clinic and how current technologies can help us keep pushing the boundaries of precision medicine.
RNA-Sequencing (RNA-seq) of oncogenic fusions is becoming increasingly popular in cancer research and diagnosis. Here, we talk about the benefits of using RNA in fusion detection workflows, the challenge of workflow variability and how to be confident of your assay results.
“SHERLOCK is exciting because it represents a sensitive approach to detect mutations, much like PCR, but it does not require a thermocycler and could work as a bedside test.” - Dr Tilmann Buerckstuemmer, Global Head of Innovation at Horizon Discovery
"RNA-Seq is the most likely NGS technique to be used by researchers in 2017 due to its versatility"
RNA-seq has become a ubiquitous tool in both biological and medical research. Much of the RNA-seq analysis done is still for differential gene expression from poly-adenylated mRNAs; but the success of RNA-seq can also be seen in the rapid increase in knowledge about biological systems and the large number of distinct variants of the method. The combination of these factors allow us to go much further than the 'simple' 3’ gene expression microarrays and now opens up the possiblities of: splicing analysis, differential allele expression, variant detection, alternative start/stop, gene fusion detection, RNA editing and eQTL mapping to name but a few...
Do you remember when…?
Do you remember when Frederick Sanger and his colleagues invented dideoxynucleotide chain termination sequencing back in 1977? Technology has come on a long way, and the recent advancements now means that we're doing more sequencing now than ever before.