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'Spin Any Story'

There are high expectations for genomic research, especially for enabling individualized medicine, writes Dan Koboldt at MassGenomics, noting that his hopes, too, are high.

"Even so, we should keep in mind that not everything is unicorns and rainbows when it comes to genomic research," Koboldt says. He then highlights a few observations he's made over the years that people should keep in mind.

First off, he says that more power is always needed to dig deeper down into rare or private variants linked to disease. Sequencing of large cohorts will be needed to get to them, he notes, and that, even with the falling cost of sequencing, will require a hefty investment.

Additionally, though whole-genome sequencing allows an unbiased survey of the genome, it also means that researchers are examining millions of sequence variants in every genome, increasing the signal-to-noise ratio, Koboldt says.

Though determining the functional consequences of variants that are unearthed is getting better, it still relies on an incomplete understanding of the genome and the regulatory elements it contains.

And, Koboldt notes, there is a danger in partial knowledge as what's known about genes and their ties to health "gives us enough information to spin a story about any gene."

"With great power comes great responsibility, and at this moment in genomics there is no greater power than large-scale whole-genome sequencing," he adds.

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