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Genomics 'Take 2'

It is "genomics Take 2."

That's what the New York Times calls Regeneron Pharmaceuticals and Geisinger Health System's partnership to sequence 100,000 genomes of patients and sort through the resulting data for disease links and useful treatment information.

The linking up of a well-heeled drug company with a large-scale healthcare system (Geisinger has three million participants) represents the kind of research program that the days of the cheaper genome make possible, the Times' Andrew Pollock writes in a profile of the partnership.

Tapping the into the genomic data of scores of thousands of patients and mining, parsing, and analyzing it for meaningful tidbits could lead to the next big drug, or to the repurposing of an old one.

"As far as I'm aware, it's the largest clinical sequencing undertaking in this country so far by a long shot," NHGRI's Leslie Biesecker told the Times, adding that the shift that brings sequencing into medical care is "going to change medicine."

Regeneron's CEO, George Yancopoulos, who the Times reports earned $80 million in 2012 (mostly in stock), says the company and the partnership "can address a lot of the limitations that kept this from turning into reality before."

Pollock writes that this project and others like it differ from earlier gene-hunting studies that sought to focus on particular spots of the genome. Now, they will sequence the entire exomes and genomes of huge populations to find rare variations that may have a huge impact on disease.

"You want the low-frequency, high-impact variants because they are the ones that are going to have more impact on the biology," explains Jeff Gulcher, chief scientist at NextCODE Health.

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