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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?


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.

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.


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.

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 The unpublished work was presented in a poster last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.

Conceptual illustration of two siblings, with one possessing an inherited mutation.

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.


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.

A white-gloved hand holds a tube containing a blood sample.

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.


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.

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.