Skip to main content
Premium Trial:

Request an Annual Quote

Jian Ma: Investigating Genomic Alterations


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."

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.