Google releases AI tool to interpret human genomes: 5 things to know

Jessica Kim Cohen -

Google released an artificial intelligence tool Dec. 4 that analyzes high-throughput sequencing data, MIT Technology Review reports.

Here are five things to know about the tool.

1. Researchers from the AI-focused Google Brain team and Alphabet's life science arm Verily developed the tool, called DeepVariant, to create a more accurate picture of individual human genomes. The researchers trained a deep-learning system on "millions of high-throughput reads and fully sequenced genomes" to teach it to accurately interpret sequenced data, according to MIT Technology Review.

2. High-throughput sequencing represents an "error-prone snapshot" of a human genome. Scientists often face challenges determining which mutations are random errors from the sequencing process and which are aspects of a human's genome. DeepVariant eases this struggle by identifying insertion and deletion mutations from the sequencing process.

3. DeepVariant reports a high level of accuracy compared to other tools used to interpret sequencing data, which tend to use simpler statistical and machine-learning approaches, according to MIT Technology Review. The PrecisionFDA Truth Challenge, a contest the FDA hosted last year to assess accuracy in genetic sequencing, named DeepVariant its first-place winner.

4. Genomic researchers have suggested tools like DeepVariant hold the key to precision medicine therapies, since understanding accurate mutations in the human genome might be relevant to treating life-threatening conditions, such as cancer.

"For the first time in history, our ability to measure our biology, and even to act on it, has far surpassed our ability to understand it," Brendan Frey, PhD, CEO of the genetic medicine company Deep Genomics, told MIT Technology Review. "The only technology we have for interpreting and acting on these vast amounts of data is AI. That's going to completely change the future of medicine."

5. Google officials plan to make DeepVariant available to users on the Google Cloud Platform.

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