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The power of NGS tools to decipher DNA.

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Dr Natasha Wood 10/03/2022

Next-generation sequencing (NGS) is a catch-all phrase for all the sequencing technologies that share the approach of using massively parallel processing. Compared to first-generation sequencing (commonly referred to as Sanger sequencing) that produces a single read (DNA fragment) at a time, NGS technologies can produce billions of short reads per experiment. With billions of sequenced DNA fragments, it is clear to see that NGS technologies are completely reliant on the availability of NGS tools to support them.

NGS tools refer to anything from bits of code to reformat data files (e.g. a Python script) to software applications for visualisation of large genomes. One of the first steps for a bioinformatician is to understand which NGS tools are important for the specific type of sample or sequence data features they are analysing. While these first steps were a painstaking process for several years after the commercial launch of NGS technologies in the mid-2000s, NGS tools have evolved and improved substantially over the past ten years.

As with many examples from history, one of the driving forces behind the improvement of NGS tools was the agreement around common language to describe the data and processing steps. Instead of each new NGS tool deciphering the data in a new way, standard nomenclature and file formats allowed researchers to build upon existing NGS tools.

Researchers working with NGS technologies and NGS tools are now comfortable referring to, for example, fastq files (standard representation of raw NGS data produced by NGS technologies), reference sequences (anything containing DNA information), alignment algorithms (the NGS tools for matching the data from fastq files to the reference) and SAM/BAM files (Sequence Alignment Maps that contain descriptive results alignment processes). Each file that is produced by one NGS tool can easily feed into the next NGS tool.

DNA data contains a wealth of untapped information for maintaining and promoting global health. NGS technologies can produce the DNA data, but understanding and realising the power of what it represents, relies largely on NGS tools. At Hyrax Biosciences, we work with partners, laboratories and researchers to develop NGS tools that make it easy to extract information from DNA sequences. We are continuously adding features and data files to our Exatype platform and product solutions that enable optimised workflows and empower users to explore any NGS tool that will benefit their work. Please get in touch to see how we can help your workflow!