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Jian Ma: Investigating Genomic Alterations

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Recommended by: David Schwartz, University of Wisconsin, Madison

Translating raw sequencing reads into practical knowledge is a driving force behind Jian Ma's research. A computer scientist by training, Ma first became interested in computational biology shortly after the draft human genome was published.

"Sequencing the genome [was] just the first step. The challenge now is to understand it. And we're not there yet," Ma says. Going forward, he adds, "I think an information-based approach will play a big role. That's why I decided to get a PhD in it."

As an assistant professor of bioengineering at the University of Illinois at Urbana-Champaign, Ma continues to investigate the presence and the effects of large-scale genomic alterations across mammalian species and within human populations — a research interest that emerged during his PhD studies and postdoctoral appointment.

"In my PhD studies, I was interested to compare [the] human genome with other mammalian species to better understand chromosome evolution," Ma says. He adds that the human genome itself is littered with structural alterations "in addition to small-scale point mutations."

Supported by a five-year National Science Foundation CAREER award, Ma's team is developing models and algorithms "to further elucidate these large-scale genomic alterations across mammalian species and in the human population, and [to] connect them with phenotypic consequences," he says. "These novel algorithms will help us facilitate detailed analyses of these complex changes."