Diagnostics Endocrinology, Genetics and epigenetics, Omics, Oncology

Cancer Drivers in the Dark Genome

A new tool for identifying cancer driver mutations in noncoding DNA

Michael Schubert | 08/22/2020 | Quick Read

Only 2 percent of the human genome encodes proteins; the remaining 98 percent is a mystery – and one we are just beginning to unravel. Evidence increasingly shows that noncoding DNA may be involved in gene regulation, including in cancer formation. But how can we plumb the depths of the noncoding genome? A new computational tool, cis-expression, may offer a solution (1).

Cis-X identifies driver mutations in two steps. First, it seeks out genes expressed on only one chromosome and at abnormally high levels; next, it looks for noncoding DNA alterations in the 3D genome. “Cis-X offers a powerful new approach for investigating the functional role of noncoding variants in cancer, which may expand the scope of precision medicine to treat cancer caused by such variants,” said senior author Jinghui Zhang (2).

The software is available free of charge at: tp.txp.to/ZhangLab/cis-X

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Diagnostics Endocrinology, Genetics and epigenetics, Omics, Oncology

Y Liu et al., Nat Genet, 52, 811 (2020). PMID: 32632335.
St. Jude Children’s Research Hospital (2020). Available at: bit.ly/317hZvh.

Michael Schubert

While obtaining degrees in biology from the University of Alberta and biochemistry from Penn State College of Medicine, I worked as a freelance science and medical writer. I was able to hone my skills in research, presentation and scientific writing by assembling grants and journal articles, speaking at international conferences, and consulting on topics ranging from medical education to comic book science. As much as I’ve enjoyed designing new bacteria and plausible superheroes, though, I’m more pleased than ever to be at Texere, using my writing and editing skills to create great content for a professional audience.