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Spectrum: Autism Research News

Tag: whole-exome sequencing

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more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

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Reference set for Prader-Willi, Angelman syndromes debuts

by  /  14 September 2011

Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.

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New mutations spike in offspring of older fathers

by  /  12 September 2011

The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.

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August 2011

Genetics: Spontaneous mutations play role in schizophrenia

by  /  30 August 2011

Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.

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New genetic map of developmental disability

by  /  24 August 2011

By comparing the DNA of thousands of children who have developmental disabilities to that of controls, researchers have identified numerous mutations likely to contribute to disease.

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