"DNA is the blueprint for life, influencing everything about usincluding our health. We know that our genes, the genetic words that encode proteins, play a major role in health and disease. But the vast majority of our genomemore than 98 percent, in factconsists of DNA that doesn't build proteins. Once disregarded as junk DNA, scientists now know that this molecular dark matter is crucial for determining gene activity in ways that keep us healthyor cause disease."
"Exactly how this DNA shapes gene expression is a mysterybut now the AI lab Google DeepMind has built a model that it says can predict the function of long stretches of noncoding DNA. The information it turns up could help solve the problem of predicting how these chunks of DNA influence our health. Called AlphaGenome, the model takes in sequences of up to one million DNA letters, also known as base pairs, and predicts how mutations in those stretches affect gene expression."
More than 98 percent of the human genome does not encode proteins but regulates gene activity in ways that affect health and disease. AlphaGenome is a machine-learning model that predicts the function of long noncoding DNA segments and estimates how mutations in those regions change gene expression. The model analyzes sequences up to one million base pairs and outputs predicted regulatory impacts. A version of the tool has been made freely available to researchers. The predictions can prioritize candidate noncoding variants, narrow experimental hypotheses about gene regulation, and support development of therapies targeting genetic disease mechanisms.
Read at www.scientificamerican.com
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