Dr Natasha Wood 18/02/2022 500 Views
End-to-end bioinformatics solutions are software, such as sequence analysis programs, that turn laboratory-produced data into interpretable results. Instead of spending hours analysing each individual experimental dataset, results from routine laboratory tests can be translated to meaningful results simply and quickly by end-to-end bioinformatics solutions.
For example, next generation sequencing (NGS) techniques produce millions of signals with a plethora of associated meta-data, which are impossible to interpret without software that can translate these data to DNA sequence fragments. However, this is just one of a series of NGS data analysis steps to get to the answer you really want. End-to-end bioinformatics solutions, such as the Exatype platform, can take the complex, raw data and produce readable and meaningful reports.
These benefits – easy-to-use, streamlined, fast – are clear, but challenges arise to ensure that the results are consistent, accurate and up-to-date. Laboratory tests and sequencing protocols are often adapted or improved, which means that end-to-end bioinformatics solutions require updates to account for the changes. In addition, databases of mutations and associated characteristics are living documents – continuously gaining more data and evidence to support interpretations and diagnoses. Therefore, the different algorithms and databases that form part of end-to-end bioinformatics solutions have to be kept up-to-date to remain useful.
One way to ensure that a laboratory is always running the most up-to-date bioinformatics software, is to develop these tools online. Not only does an online platform allow for real-time upgrades, but also drives access to these end-to-end bioinformatics solutions – any user with an internet connection can access state-of-the-art bioinformatics software. Furthermore, reproducibility is essential in laboratory testing and online software enables a level of audit trail that is extremely challenging with offline programs.
Talking about Omicron and Delta provides a very familiar example of the benefits of online end-to-end bioinformatics software in action. Hyrax Biosciences’ platform for SARS-CoV-2 genotyping is used globally to translate raw NGS sequencing data to interpretable results and the names of SARS-CoV-2 variants, e.g. Omicron, form part of these results (Figure 1).
It is clear that SARS-CoV-2 bioinformatics software have to stay as up to date as the number of SARS-CoV-2 variants. This is why our Exatype SARS-CoV-2 platform includes automated tests that continuously check whether the global standard for calling variants (Nextclade) has been updated and, if so, an update is pushed to our online end-to-end bioinformatics solution. While these updates are invisible to the user, they are essential for accurate, real-time reporting.
As the pandemic ebbs and flows, Hyrax Biosciences continues to support the analysis and surveillance of SARS-CoV-2 data. The Exatype SARS-CoV-2 platform is an online end-to-end bioinformatics solution that is available for free and analyses data from multiple sequencing platforms and protocols. Experience the easy-to-use, streamlined analysis workflow today!