Researchers from the Commonwealth Scientific and Industrial Research Organisation's (CSIRO) Australian e-Health Research Centre have developed a more powerful way to find the genes that cause disease using artificial intelligence.
The software offers a more reliable way to recreate gene mutations in the lab, touted by CSIRO as being a step closer to better diagnosis and treatment of genetic diseases.
The new cloud-based software, CUNE, is the result of a collaboration between CSIRO and the John Curtin School of Medical Research at the Australian National University.
The software -- detailed this week in Scientific Reports -- makes HDR-based editing 83 percent more efficient.
"A single misspelling in the three-billion letter long human genome can cause life-threatening diseases such as cystic fibrosis," CSIRO Transformational Bioinformatics Group Leader Dr Denis Bauer said.
"To try figure out which genomic mutations cause specific diseases, researchers have to recreate these mutations in the equivalent gene in the lab -- which has traditionally been labour-intensive and slow, limited to diagnosing disease rather than treating it.
She said AI allows for a much faster and more powerful tool than the existing base-editing technology.
As explained by Bauer, researchers use base-editing to mutate specific letters in the genome, but this method can only be used for some changes, such as changing a "C" to a "T" but not an "A".
"HDR-based nucleotide editing provides a custom DNA template to copy, allowing researchers to make any change they need -- but it's never been a reliable option before now," she explained. "Our software is the first software tool to support HDR-nucleotide editing and make it a more reliable editing tool.
"We hope it will make it easier for researchers to understand the genomic causes of diseases to develop cures and treatments -- and accelerate the human race's understanding of how the genome really works."
The transformational bioinformatics team that Bauer leads has the charter to develop novel bioinformatics solutions for research and industry, and uses the latest in cloud and BigData infrastructure.
It specifically focuses on population-scale analysis of genomics, transcriptomics, and methylomics, as well as genome engineering applications.
Working for the eHealth research program within CSIRO, which is the largest digital health agency in Australia, Bauer said previously that the teams are focused on improving healthcare through using digital technologies and services.
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