Genes That Shape Bones Identified, Offering Clues About Our Past and Future; Application of AI to Medical Imaging Datasets Has Revealed Genetics of Skeletal Form for First Time

Using artificial intelligence (AI) to analyze tens of thousands of X-ray images and genetic sequences, researchers from The University of Texas at Austin and the New York Genome Center have been able to pinpoint the genes that shape our skeletons, from the width of our shoulders to the length of our legs. The research, published as the cover article of the July 21, 2023 issue of Science, pulls back a curtain on our evolutionary past and opens a window into a future where doctors can better predict patients’ risks of developing conditions such as back pain or arthritis in later life. The open-access article is titled “The Genetic Architecture and Evolution of the Human Skeletal Form.” “Our research is a powerful demonstration of the impact of AI in medicine, particularly when it comes to analyzing and quantifying imaging data, as well as integrating this information with health records and genetics rapidly and at large scale,” said Vagheesh Narasimhan, PhD, an Assistant Professor of Integrative Biology as well as Statistics and Data Science at the UT Austin, who led the multidisciplinary team of researchers, to provide the genetic map of skeletal proportions.

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