Verily Blog: DeepVariant: Highly Accurate Genomes With Deep Neural Networks

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DeepVariant: Highly Accurate Genomes With Deep Neural Networks

Monday, December 4, 2017

Google BrainDeepVariant

Below is the original announcement posted on Google Research and Open Source blogs.
By Mark DePristo and Ryan Poplin, Google Brain Team Sanger sequencingmicroarray technologieshealthagricultureecologyGenome in a Bottle ConsortiumprecisionFDA

For any given location in the genome, there are multiple reads among the ~1 billion that include a base at that position. Each read is aligned to a reference, and then each of the bases in the read is compared to the base of the reference at that location. When a read includes a base that differs from the reference, it may indicate a variant (a difference in the true sequence), or it may be an error.

existing technology and expertise

Each of the four images above is a visualization of actual sequencer reads aligned to a reference genome. A key question is how to use the reads to determine whether there is a variant on both chromosomes, on just one chromosome, or on neither chromosome. There is more than one type of variant, with SNPs and insertions/deletions being the most common. A: a true SNP on one chromosome pair, B: a deletion on one chromosome, C: a deletion on both chromosomes, D: a false variant caused by errors. It's easy to see that these look quite distinct when visualized in this manner.

We started with GIAB reference genomes, for which there is high-quality ground truth (or the closest approximation currently possible). Using multiple replicates of these genomes, we produced tens of millions of training examples in the form of multi-channel tensors encoding the HTS instrument data, and then trained a TensorFlow-based image classification model to identify the true genome sequence from the experimental data produced by the instruments. Although the resulting deep learning model, DeepVariant, had no specialized knowledge about genomics or HTS, within a year it had won the the highest SNP accuracy award at the precisionFDA Truth Challenge, outperforming state-of-the-art methods. Since then, we've further reduced the error rate by more than 50%.

DeepVariant is being released as open source software to encourage collaboration and to accelerate the use of this technology to solve real world problems. To further this goal, we partnered with Google Cloud Platform (GCP) to deploy DeepVariant workflows on GCP, available today, in configurations optimized for low-cost and fast turnarounds using scalable GCP technologies like the Pipelines API. This paired set of releases provides a smooth ramp for users to explore and evaluate the capabilities of DeepVariant in their current compute environment while providing a scalable, cloud-based solution to satisfy the needs of even the largest genomics datasets.

DeepVariant is the first of what we hope will be many contributions that leverage Google's computing infrastructure and ML expertise to both better understand the genome and to provide deep learning-based genomics tools to the community. This is all part of a broader goal to apply Google technologies to healthcare and other scientific applications, and to make the results of these efforts broadly accessible.

What's next?

We are excited about applying DeepVariant to enhance analysis of samples from Verily Clinical studies, such as Project Baseline.

Learn how you can run DeepVariant by reading the how-to-guide.

Posted by David Glazer, Director of Engineering, Verily

Google

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