Brigham Young University researchers have devised a way to assemble the human genome and simultaneously discovered new methods for recognizing markers of some common genetic disorders.
The researchers developed a new algorithm that was designed to be sensitive enough to pick up on subtle variations in different DNA sequences. It worked, and the researchers were serendipitously able to find new information on genetic disorders.
BYU computer science Ph.D student Paul Bodily led the research team that made the discovery. He said that though he and his team didn’t set out to explore genetic disorder indicators, it was still an exciting result.
“It required a lot of persistence and the outcome wasn’t what I had originally planned to investigate,” Bodily said. “I just continued down a path, not knowing where it was going to lead, until I found something shiny.”
The research was recently published in Bioinformatics, a medical journal. The paper outlines how the algorithm developed by Bodily and his team is able to outperform previous methods to construct the human genome. It also explains the unintended discovery of the algorithm to detect mutations in the genetic code that lead to disorders.
“There are diseases, like autism, that we’re really uncertain as to what causes them,” Mark Clement, BYU professor in computer science and senior author of the paper, said. “To at least have improved tools for detecting a possible cause is important.”
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