.Genetics is a field where technology is developing very rapidly. Eurofins Biomnis has chosen to actively contribute to making these new techniques available, by acquiring cutting-edge equipment and relying on a team of scientists and bioinformatics specialists who are in day-to-day contact with the clinical biologists, to ensure that the best possible medical services are provided.
Next generation sequencing (NGS) (also known as second generation sequencing) has become a common tool in genetics laboratories as the quality of the sequencing allows the accurate detection of a large number of genomic variations. However, the small size (hundreds of bases) of the readings generated by NGS is inconvenient when screening for variants in repeated regions, structural variants or even triplet expansions. The introduction of so-called third-generation sequencing (TGS or long-read sequencing) allows, through its longer reads (N50 ~ 15-25 kb), the detection of all of these abnormalities using a single technique.
The laboratory has a GridION sequencer produced by Oxford Nanopore Technologies for use in a range of research projects. We have thus been able to demonstrate the capacity of shallow-depth genome sequencing to detect structural variations (SV) and triplet expansions. In a series of targeted sequencing experiments, we have also demonstrated the effectiveness of the method for detecting and phasing SNVs and indels.
The genetics and sequencing units rely on a team of dedicated bioinformatics specialists who develop and maintain ‘customised’ analysis tools. Based on the recommendations of learned societies such as the ANPGM, NGSdiag and the ACMG, bioinformatics pipelines are implemented on secure internal infrastructure. The team ensures data safety, the traceability of results and provides the scientists with metrics so that quality control can be performed. Alongside these standardised analyses, the bioinformatics specialists take part in one-off research projects that required additional data analysis.