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BYU Researchers Improve Genome Assembly, Stumble upon Signatures for Genetic Disorders

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Photo by BYU Photo

Researchers at BYU have developed a new method for human genome assembly and inadvertently discovered a new way to identify elusive markers for several common genetic disorders.

The novel approach relies on a new algorithm, developed by the researchers, that is more sensitive to detecting specific types of variation in DNA sequences.

“It required a lot of persistence and the outcome wasn’t what I had originally planned to investigate,” said lead author Paul Bodily, PhD student in computer science. “I just continued down a path, not knowing where it was going to lead, until I found something shiny.”

Read the full story here.