Enter Google and its seemingly limitless computing capacity. About a year and a half ago, David Glazer, a Google engineering director in search for a new challenge, formed a team within the company to find life-science projects that could benefit from using its cloud platform, which was designed to store and analyze massive data sets. Autism Speaks, which had already been collecting genomes from patients and their families for 15 years, seemed the perfect fit.
"Part of Google's business is to make our cloud platform useful and available to anyone who has hard, scalable information and data problems to solve," Glazer said. But "until fairly recently, a biologist didn't need a tool more powerful than Excel to work with all the data that they were able to gather. That's changed, particularly with the advent of genomics and genomic sequencing. "This is a tremendous opportunity to really put our platform to use," he added, "and, of course, being a great customer for our platform."
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That the lead researcher for Google's first life-science client should be Dr. Scherer makes some historical sense. His signature work greatly contributed to the massive increase in data now produced by many geneticists.
In 2004, Dr. Scherer discovered a major form of genetic variation that researchers had previously overlooked. For decades, scientists had believed that all people were born with two pairs of every gene—one from their father and one from their mother. But using a new form of high-resolution scanning technology that allowed him to examine DNA more closely than ever before, Scherer and his colleagues found that people can have three copies of a gene, or one, or even none at all. Sometimes these copy number variants, as they are known, make no difference to a person's development. Other times they lead to serious developmental conditions, such as autism.
"Some genes are fine in only one copy, and some are fine in zero copies, believe it or not," he said. "But there are a set of genes that if you only have one copy, or three copies, anything away from the typical two, it causes developmental problems. And that's what we've seen in autism."