Breakthrough in Predicting Human Diseases with Primate Genome Sequencing AI

By: | June 10th, 2023

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Scientists from 24 countries have conducted a pioneering study, mapping the DNA of over 233 primate species. This study has yielded vital discoveries about disease-causing mutations in humans while also shedding light on primate evolution.

This multinational collaborative effort was led by the Human Genome Sequencing Center at Baylor College of Medicine, the Institute of Evolutionary Biology at Pompeu Fabra University in Barcelona, Spain, and Illumina, Inc.

Primate genomic information may shed light on human evolution.

The study holds immense significance in the fields of human evolution, enhancing our understanding of the human genome, unraveling the roots of human diseases, and fostering conservation initiatives for the future.

This initiative, known as the Primate Genome Project, has successfully compiled the most comprehensive collection of primate genomic information to date. This ground-breaking study encompasses nearly half of all primate species on Earth, with over 800 individual primates from 233 species analyzed.

Researchers utilized the genetic blueprints of 233 primate species to train an advanced artificial intelligence tool. This tool effectively detected and isolated disease-causing genetic variations in human genomes with remarkable accuracy.

The researchers identified an impressive 4.3 million common missense mutations, shedding new light on primate genetics and its implications for human health.

Leveraging Primate Mutations to Forecast Human Disease Risk

Researchers think that their similarity to the human genome makes nonhuman primate species an invaluable source for studying the genetic basis of human diseases. Researchers suggest that if a rare mutation is absent in the primate genome, it is likely to be implicated in human disease, underscoring its significance.

Newly obtained data has challenged our previous understanding of the genetic distinction between humans and our ancestors.

Nidhi Goyal

Nidhi is a gold medalist Post Graduate in Atmospheric and Oceanic Sciences.

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