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Jan Korbel: Large-Scale Structural Variation

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Recommended by: Mark Gerstein, Yale University

While he was a postdoc at Yale, Jan Korbel says he and his colleague Alexander Urban — now at Stanford University School of Medicine — sought to "catch" the breakpoints of large-scale genomic rearrangements using high-resolution tiling microarrays. "When we saw that next-generation sequencing technologies were about to take off, with all their potential for genomic variation research, that's what really spurred my interest in devoting most of my research to genomic variation, particularly large-scale genomic structural variants," says Korbel, a group leader at the European Molecular Biology Laboratory.

"My group is developing and applying experimental and computational biology approaches to study the extent, functional impact, and mutational origins of genetic variants — particularly large deletions, insertions, duplications, translocations, and inversions — within the genome," he says. The Korbel lab participates in both the 1,000 Genomes Project — specifically, its Structural Variation Analysis Group for which Korbel was recently named co-chair — and in three International Cancer Genome Consortium projects.

Looking ahead

Korbel expects convergence to be a recurring theme in functional genomics research. "I foresee massive, complex integration of personalized readouts — including genomes, transcriptomes, microbiomes, epigenetic information, and environmental data — generated at different time points and correlated with phenotypic information," he says.

On the structural variation front, Korbel looks forward to the emergence of new sequencing technologies "that will help read human chromosomal DNA accurately over long distances," he says. "This will considerably facilitate structural variant ascertainment and genome assembly … and, further, will provide novel insights into complex, repeat-rich, segmentally duplicated regions, which are often disease-related, but which presently are under-ascertained owing to limitations in technology."

And the Nobel goes to…

Korbel says were he to win, he'd hope it to be for "finding the cure for cancer and other deadly diseases by performing basic research — what else?"

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