Precision medicine is potentially revolutionizing diagnostics and treatment by targeting mutations that are specific to individual patients with various diseases, including cancer. The Institute of Pathology and Neuropathology at the Essen University Hospital, Germany, is following this ethos, relying on NGS to look for biomarkers associated with a number of key malignancies.
Genetic screening is used during pregnancy to look for hereditary conditions due to a chromosomal abnormality – such as Down’s syndrome – or changes in the DNA sequences, and typically involves an invasive amniocentesis procedure. Yourgene Health, an international molecular diagnostics group, has developed an automated, non-invasive alternative, for more accurate and safer prenatal screening.
The ever-increasing throughput and ever-decreasing cost of next generation sequencing have made this technology a practical and affordable solution for everything from molecular diagnostics and antimicrobial susceptibility testing to crop research and environmental monitoring. For many of these applications, the bottleneck in the workflow – which can account for considerable hidden costs – lies in sample extraction. Tecan has partnered with Zymo Research to offer labs an automated and optimized solution for nucleic acid processing.
Genetic testing to screen for congenital defects is useful to identify susceptibility to, or the cause of, many diseases. The medical genetics department at the Policlinico di Milano – a teaching hospital in Italy’s Lombardy region – is using automation to improve the throughput of its genetic screening workflow, aiming to increase the number of diseases it can test for, and the number of samples it can handle.
CNS disorders are often seen as the greatest area of unmet medical need, and are characterized by changes or degeneration in specific subsets of neurons and other cell types in the brain. Pharmaceutical start-up Cerevance is using a new sequencing method to study specific cell types from post-mortem brain tissue, helping the company to understand the pathology of these conditions in more detail than previously possible.
Next generation sequencing is now in widespread use throughout the life sciences sector, but the commonly used short-read sequencing methods are often subject to GC base pair bias. Combined with the inherent mapping ambiguity of the short reads, this often results in fragmented genome assemblies, creating a demand for technologies offering longer reads that simplify analysis and yield more complete sequences. Using its proprietary technology, Pacific Biosciences is able to offer longer reads, more uniform coverage and high accuracy, supporting advanced genomics, full-length transcript sequencing and epigenetics.
Canada’s Molecular Genetics Laboratory at the Pacific Biological Station uses DNA analysis to identify and track salmon from different hatcheries. Automated NGS has enabled the laboratory to introduce parentage-based tagging, a cost-effective alternative to the coded wire tag system.
The GeT genomics facility near Toulouse has been developing a series of automated NGS protocols in collaboration with Tecan – including Illumina’s TruSeq® DNA and RNA kits, as well as Bioo Scientific’s NEXTflex™ PCR-Free Modules – on two Freedom EVO® workstations, helping to improve throughput and reliability for a wide range of projects.