While the front pages of major publications have been full of stories of inflation, supply chain issues and the climate summit in Scotland, we wanted to bring your attention to a relatively obscure blog post from the Deepmind project, a gene sequencing project built with help from Google’s Calico Artificial Intelligence division. Deepmind is attempting to use the gene map published by the Human Genome Project to determine how DNA influences our health and development. Fascinatingly, only 2% of roughly 3 billion genes in the genome instruct the development of the amino acid sequences of proteins which are essential components of the human cell. The remaining 98% are “non-coding” and contain less understood instructions on how, when and where genes should be expressed in the body.

I like to think of the gene as the thickest branches of a immensely complex tree, with the non-coding genes telling the coding genes when they need to branch off and eventually sprout leaves. A disorder at the gene level could take multiple routes before receiving a message from one of the “non-coding” genes that results in a non-sprouting or differently coloured leaf a great distance and multiple branches away.

To date, Deepmind has used a model that could only predict shifts from these “non-coding” genes over long sequences of 40,000 pairs. Using a new model, dubbed “Transformer,” which uses Artificial Intelligence to lengthen this distance 5x (to 200,000 pairs) and can highlight edits from these “non-coding” genes that lead to variants associated with complex genetic diseases. They also made their model freely available, like open source software, to promote the study of genes and the causes of these complex diseases.

While this isn’t going to change the world today like the supply chain and climate change is, it increases the probability that positive change to the treatment of complex genetic diseases will come at some point in the future, and warrants our attention for its impact on health care companies that all of us hold. Maybe AI isn’t that bad after all.

https://deepmind.com/blog/article/enformer?utm_campaign=Sunday%20Newsletter&utm_medium=email&_hsmi=169572166&_hsenc=p2ANqtz-_fylozEMk7z8BJ-YUJBHhd3KSLWBFML7mphrqKWiKmZlmuA6Quagd-E8r-FdU1Tr48JPt8Yr7jw2Q_cYdYFDBKCr-pMQ&utm_content=169572166&utm_source=hs_email

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