Almost 15 years after scientists first sequenced the human genome, making sense of the enormous amount of data that encodes human life remains a formidable challenge. On Monday, Google released a tool called DeepVariant that uses the latest AI techniques to build a more accurate picture of a person’s genome from sequencing data. DeepVariant helps turn high-throughput sequencing readouts into a picture of a full genome. High-throughput sequencing became widely available in the 2000s and has made genome sequencing more accessible.
It is typically challenging for scientists to distinguish small mutations from random errors generated during the sequencing process, especially in repetitive portions of a genome.
The team collected millions of high-throughput reads and fully sequenced genomes from the Genome in a Bottle project, a public-private effort to promote genomic sequencing tools and techniques.
Wuxi Nextcode has amassed the world’s largest collection of fully sequenced human genomes, and the company is investing heavily in machine-learning methods.