This week, Google released a tool called DeepVariant that uses deep learning to piece together a person’s genome and more accurately identify mutations in a DNA sequence.Built on the back of the same technology that allows Google to identify whether a photo is of a cat or dog, DeepVariant solves an important problem in the world of DNA analysis. Modern DNA sequencers perform what’s known as high-throughput sequencing, returning not one long read out of a full DNA sequence but short snippets that overlap. Those snippets are then compared against another genome to help piece it together and identify variations. But the technology is error-prone, and it can be difficult for scientists to distinguish between those errors and small mutations. And small mutation matter. They could provide significant insight into, say, the root cause of a disease. Distinguishing which base pairs are the result of error and which are for real is called “variant calling.”

Source: Google Taught an AI to Make Sense of the Human Genome