Working toward uniform genetic data
Researchers have made progress on a major hurdle for next-level genetic treatments.
A team of scientists has presented new ways to integrate data from different genome sequencing platforms, which would produce a reliable set of genotypes to benchmark human sequencing.
Establishing such a benchmark will help with the spread and comparison of genetic data, which can often come from a range of sources, devices, languages and formats.
“Understanding the human genome is an immensely complex task and we need great methods to guide this research,” biomedical engineer Justin Zook of the US National Institute of Standards and Technology says.
“By establishing reference materials and gold standard data sets, scientists are one step closer to bringing genome sequencing into clinical practice.”
New methods are described in the latest edition of Nature Biotechnology.
The collaborative effort between experts from Harvard University and the Virginia Bioinformatics Institute of Virginia Tech is aimed at setting up standards which can be easily integrated into existing operations.
The methods put forth by the researchers may make it possible to use an individual's genetic profile to guide medical decisions.
“We minimize biases toward any sequencing platform or data set by comparing and integrating 11 whole human genome and three exome data sets from five sequencing platforms,” says Zook.
The United States’ National Institute of Standards and Technology has already set up the Genome in a Bottle Consortium, which makes well-characterised, whole-genome reference materials available to research, commercial, and clinical laboratories.
Progress has been made already, with tools developed to analyse vast amounts of genomic information employed to create a new metric. It can reportedly be used to determine the accuracy of gene variations and understand biases and sources of error in sequencing and bioinformatics methods.
The findings are available to the public on the Genome Comparison and Analytic Testing website, known as GCAT, which also enables real-time benchmarking of any DNA-sequencing method.