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Spectrum: Autism Research News

Tag: exome

April 2013

What about the other 97 percent?

by  /  8 April 2013

Exome sequencing has produced a wealth of insight into the heritability of autism and identified a number of promising risk genes. But how much risk lies outside the exome?

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Can you Google your way to a hypothesis?

by  /  1 April 2013

In his Directors’ Column, Alan Packer points out how a number of autism risk genes act on a common cellular pathway regulated by a single protein. What other similar convergent paths might be hiding in the literature? Let’s go on a treasure hunt.

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March 2013

Rho family of enzymes at crossroads of autism

by  /  12 March 2013

A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.

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Scientists hunt for ‘mini’ hotspots linked to autism

by  /  4 March 2013

Small regions of DNA that are structurally prone to deletions and duplications are unlikely to play a major role in autism, according to research published 7 February in the American Journal of Human Genetics.

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January 2013

Network of protein variants suggests new autism genes

by  /  25 January 2013

Researchers have created a network of various forms of many proteins linked to autism, revealing new molecular interactions that may play a role in the disorder. The unpublished work was presented in a poster last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.

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Sequencing studies implicate inherited mutations in autism

by  /  23 January 2013

Rare, inherited mutations contribute to a significant proportion of autism cases, helping to explain the heritability of the disorder, according to two new studies published today in Neuron.

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Study links autism to genomic ‘hotspots’ of mutation

by  /  21 January 2013

The genome appears to be littered with so-called ‘hotspots,’ areas that are prone to single-letter mutations, according to research published 21 December in Cell.

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Studies hint at promise for blood-based autism biomarkers

by  /  14 January 2013

Gene expression changes measured in blood may help differentiate children with autism from those without the disorder, suggest two studies published in the past few months.

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Genetics: Autism mutations alter DNA structure

by  /  9 January 2013

A significant proportion of mutations linked to autism alter proteins that regulate gene expression by modifying the structure of DNA, according to a study published 13 November in Molecular Psychiatry.

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December 2012

Stephan Sanders on whole-exome sequencing

 /  28 November 2012

Watch the complete replay of Stephan Sanders’ webinar on exome sequencing and autism risk genes. Submit your own follow-up questions.

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