Research led by Olga Troyanskaya, a Princeton professor of computer science and genomics, has led to a new method for searching the entire human genome for mutations that affect how genes are regulated and predicting how those mutations might be associated with diseases such as autism. Genes predicted to be disrupted by regulatory mutations in people with autism tended to be involved in brain cell functioning and fell into two categories. One category (shown in blue) relates to synapses, communication hubs between neurons, and the other (shown in red) relates to chromatin, the highly structured form of DNA and proteins required for proper gene expression in chromosomes.
Image courtesy of the researchers
Artificial intelligence detects a new class of mutations behind autism
Steven Schultz, Office of Engineering Communications, May 28, 2019 9:12 a.m.
Many mutations in DNA that contribute to disease are not in actual genes but instead lie in the 99% of the genome once considered “junk.” Even though scientists have recently come to understand that these vast stretches of DNA do in fact play critical roles, deciphering these effects on a wide scale has been impossible until now.
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