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Tag: SNPs

January 2013

Autism-linked protein differs in male and female brains

by  /  24 January 2013

The autism-linked protein MET is expressed at lower levels in the brains of men with autism than in control brains, according to unpublished research presented Thursday at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California. Women with autism do not differ from healthy controls, however.


Genetics: Intellectual disability traced to new mutations

by  /  18 January 2013

Spontaneous, or de novo, mutations are present in about half of individuals with severe intellectual disability who do not have large genetic disruptions, according to two sequencing studies published in November.


Survey says

by  /  11 January 2013

Parents who have one child with autism would like a genetic test to predict their next child’s risk of the disorder. But it’s not clear how well the tests work.

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Newer mutations more likely to lead to disorders

by  /  9 January 2013

Of the thousands of DNA variants linked to autism, those that evolved later are the most likely to be harmful, according to a study published 28 November in Nature.

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November 2012

Genetic tests for autism debut amid concerns about validity

by  /  1 November 2012

A genetic panel intended to predict the risk of developing autism debuted for clinical use in April, while another is in commercial development and a third was published in Molecular Psychiatry in September. But some experts are concerned, saying the tests are based on preliminary scientific evidence.

October 2012

Common variants, en masse, may add up to strong autism risk

by  /  15 October 2012

Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.

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September 2012

Genetics: Early seizures define Rett-like syndrome

by  /  28 September 2012

Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.

August 2012
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Algorithm fine-tunes analysis of rare variants

by  /  22 August 2012

A new algorithm increases the accuracy of techniques that detect rare genetic variants among populations, according to a study published 27 July in Bioinformatics.

July 2012

Genetics: Study ties three immune genes to autism

by  /  25 July 2012

Common variants in three genes involved in the immune system are more likely to crop up in people with autism than in typical controls, according to a study published 9 June in Molecular Autism.

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Expression data links gene candidates to autism

by  /  11 July 2012

Identifying genetic variants that affect the expression of other genes can enhance traditional gene association analyses and highlight candidate risk factors for autism, according to a study published 16 May in Molecular Autism.