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Spectrum: Autism Research News

Tag: whole-exome sequencing

April 2012

Large sequencing study ties autism genes to fragile X

by  /  26 April 2012

Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.

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New diagnostic

by  /  17 April 2012

Parents searching for a genetic diagnosis for their child with autism now have a new option: a test that analyzes 62 different genes linked to syndromic autism, meaning cases of the disorder caused by mutation of a single gene.

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Hundreds of genes involved in autism, sequencing studies say

by  /  4 April 2012

The largest set of exome sequencing studies of children with autism and their families to date has identified a handful of genes that may increase risk of the disorder, according to research published in Nature.

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January 2012

To make big data available to all, reach for the clouds

by  /  5 January 2012

As the amount of genomics and other data rapidly grows, researchers are turning to cloud computing; commercial services for remote data storage and processing that allow even those with little infrastructure to handle big data.

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December 2011

Genomic liability

by  /  9 December 2011

The rise of whole-genome sequencing is likely to result in a deluge of lawsuits against doctors for misinterpreting disease risks, two lawyers caution in an essay in Slate.

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November 2011

Wholesale genomes

by  /  22 November 2011

In October, the autism science and advocacy organization Autism Speaks announced its plans to sequence whole genomes of 10,000 children with the disorder and their family members over the next two years.

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Genetics: Middle East study tags intellectual disability genes

by  /  15 November 2011

By focusing on recessive mutations inherited from both parents, researchers have identified 50 new candidate genes for intellectual disability.

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September 2011

Model systems

by  /  23 September 2011

The more we find out about human genetics, the more valuable model organisms are likely to become, say autism researchers.  

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Ambitious U.K. project set to sequence 10,000 genomes

by  /  15 September 2011

The largest and most ambitious genome-sequencing project to date aims to identify rare variants and study their association to disease traits in 10,000 people.

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Autism exome study pinpoints mutations in brain genes

by  /  14 September 2011

Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

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