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New class of genetic transformations behind autism identified by AI

Using Artificial Intelligence (AI), specialists have found new genetic defects that add to autism in individuals.

Most past research on the genetic basis of disease has concentrated on the 20,000 known genes and the surrounding sections of DNA that manage those genes.

Be that as it may, even this tremendous measure of genetic data makes up just somewhat more than one percent of the 3.2 billion chemical pairs in the human genome.

The other 99 percent has conventionally been idea of as “dark” or “junk,” albeit recent research has started to disturb that thought.

In their new finding, detailed in the journal Nature Genetics, the research group offers a strategy to understand this huge array of genomic information.

The system utilizes an AI method called deep learning in which an algorithm performs successive layers of analysis to find out about patterns that would some way or another be difficult to recognize.

The algorithm shows itself how to recognize biologically relevant sections of DNA and predicts whether those snippets play a role in any of in excess of 2,000 protein associations that are known to influence the guideline of genes.

“This method provides a framework for doing this analysis with any disease,” said Olga Troyanskaya, Professor at Princeton University in the US.

The methodology could be especially useful for neurological disorders, cancer, heart disease and many other conditions that have evaded endeavors to distinguish genetic causes.

In the case of autism, the specialists investigated the genomes of 1,790 families with “simplex” autism spectrum disorder, which means the condition is clear in one child however not in different individuals from the family.

The strategy arranged among 120,000 mutations to discover those that influence the behaviour of genes in people with autism.

Among this sample, less than 30 percent of the general population influenced by autism spectrum disorder had a previously identified genetic cause.

The newly found mutations are likely to significantly increase that fraction, the researchers said.

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