Genomic sequencing instruments err—now this tool identifies the mistakes
Instruments, even expensive, high-tech ones like DNA sequencing machines, aren't perfect. Researchers use sequencers to decode the chemical bases that make up DNA, the blueprint of life. The devices play a key role in cancer research, including diagnosis and treatment. But sequencers can also introduce errors.
Scientists at St. Jude Children's Research Hospital have created a mathematical tool to find instrument-caused errors. They named the tool SequencErr and offered it for free to academic researchers worldwide.
The tool may help a range of people, from cancer patients and cancer center staff to companies that manufacture sequencers or make products including medicine and beer. Brewers may benefit because rare strains of yeast carry mutations that affect fermentation and taste.
The creators hope SequencErr will soon help doctors find cancer cells that evade treatment. "The tool will help us measure remaining cancer cells and determine if more therapy is needed to prevent relapse," said Xiaotu Ma, Ph.D. of St. Jude Computational Biology.
A report on this research appeared in Genome Biology on Jan. 25, 2021