Genetic Missense Mutations Linked to Autism Spectrum Disorder Discovered

by Colleen Fleiss on  June 13, 2018 at 2:21 AM Genetics & Stem Cells News
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Framework that identifies genetic missense mutations associated with autism spectrum disorder was developed by the team which includes Carnegie Mellon University's Kathyrn Roeder.
Genetic Missense Mutations Linked to Autism Spectrum Disorder Discovered
Genetic Missense Mutations Linked to Autism Spectrum Disorder Discovered

Missense mutations occur when there is a change in one gene's DNA base pair, and the change results in the substitution of one amino acid for another in the gene's protein. The findings of the study are published in Nature Genetics.

"Identifying genetic mutations that increase the likelihood of disease is a major challenge to progress for personalized medicine. Using a machine learning model that predicts which mutations are likely to perturb the human interactome network, we showed that these mutations are much more likely to occur in autistic children than their siblings," said Roeder, the UPMC Professor of Statistics and Life Sciences in the Dietrich College of Humanities and Social Sciences. "This result extends to several other mental disorders suggesting that our finding may have even broader applicability."

Source: Eurekalert

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