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Spectrum: Autism Research News

Tag: sequencing

August 2013

Whole-genome sequencing unearths new autism mutations

by  /  1 August 2013

The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.

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May 2013

Simon Fisher: Hunting on the FOXP2 trail

by  /  20 May 2013

Simon Fisher made headlines in 2001 for finding the first gene related to language. He has been following FOXP2 ever since, and has found that it is important in autism and other psychiatric disorders.

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April 2013

Genetics: Gene variants modulate Rett symptoms

by  /  30 April 2013

A single gene mutation leads to Rett syndrome, but other variants may modify the severity of an individual’s symptoms, according to a study published 28 February in PLoS One.

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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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Slicing the genetic pie

by ,  /  5 April 2013

Jason Stein and Daniel Geschwind analyze how different types of genetic variation contribute to autism risk.

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March 2013

Promise and pitfalls of induced stem cells for autism

by ,  /  26 March 2013

Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.

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Atlas maps ‘junk’ DNA that may regulate brain development

by  /  6 March 2013

Researchers have cataloged thousands of DNA regions that may act as enhancers — regulating gene expression from afar — in the developing mouse and human brains, according to a study published 14 February in Cell.

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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
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.

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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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