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Spectrum: Autism Research News

Tag: de novo mutations

June 2017

The interplay of common, rare variation in autism

by  /  27 June 2017

Autism researchers should ditch the false dichotomy between common inherited variants and much rarer random mutations.

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Illustration showing large group of people in a shape suggestive of a GWAS visual, connected to a pertri dish. The image is suggestive of large scale genetics research.

From 0 to 60 in 10 years

by  /  27 June 2017

After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.

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Burning debate: What’s the best way to nab real autism genes?

by  /  27 June 2017

How to best use a large volume of data to discover new genetic risk factors for autism is a matter of intense debate, particularly in light of historical challenges.

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May 2017

Complex gene interactions in autism offer avenues for treatment

by  /  23 May 2017

Teasing out how genes interact can offer clues to autism’s causes and point to treatment targets.

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Common variants, rare mutations combine to shape autism risk

by  /  15 May 2017

Children with autism inherit a greater burden of common genetic variants associated with autism than would be expected by chance. These variants combine with rare, spontaneous mutations to boost autism risk.

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What makes a gene an autism candidate? Not everyone agrees

by  /  11 May 2017

Whether a gene should be considered a ‘novel candidate’ for autism depends not just on whether it’s been linked to the condition before, but on the strength of that link.

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April 2017

Analysis winnows list of mutations tied to autism

by  /  6 April 2017

As many as one in three rare mutations seen in people with autism may have nothing to do with the condition.

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March 2017

Rare autism mutations linked to distinct sets of features

by  /  29 March 2017

Children who carry certain rare mutations linked to autism learn to walk late — but have less severe social and language difficulties than do other children with the condition.

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Sequencing thousands of whole genomes yields new autism genes

by  /  6 March 2017

An analysis of whole genomes from more than 5,000 people has unearthed 18 new candidate genes for autism.

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February 2017

International effort expands list of genes tied to autism

by  /  15 February 2017

A massive sequencing study spanning seven countries links 38 new genes to autism and developmental delay.

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