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Spectrum: Autism Research News

Tag: whole-exome sequencing

January 2013

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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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.

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December 2012

Genetics: Searching for answers

by  /  6 December 2012

Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.

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Software tool homes in on disease-linked mutations

by  /  5 December 2012

By combining pedigree information with sequencing data, a new software tool helps focus on genetic variants likely to be responsible for disease, researchers reported 10 October in Bioinformatics.

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November 2012
Isolated chromatin

Sequencing study uncovers new candidate genes for autism

by  /  15 November 2012

A new candidate gene for autism, CHD8, may account for up to 0.4 percent of cases of the disorder, according to research published today in Science. CHD8 is one of six genes identified that together may contribute to one percent of autism cases.

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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.

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October 2012

Mutations in both gene copies more common in autism

by  /  30 October 2012

People with autism are twice as likely as controls to have mutations that disable both copies of a gene, according to preliminary research presented Wednesday at the Autism Consortium Research Symposium in Boston.

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September 2012

Postmortem brains crucial for autism research

by ,  /  4 September 2012

Postmortem brains from individuals with autism allow researchers to look at patterns of gene expression in different cell types, and to understand the interplay among neurons and neural circuits, says Dan Arking.

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August 2012

Genes and environment are two-way street in autism risk

by  /  21 August 2012

Genes and the environment each influence the role of the other in determining the risk of developing autism. Genetics can determine how susceptible one is to the environment, and environmental factors can influence gene expression and introduce mutations, says immunologist Janine LaSalle.

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Scientists uncover new risk gene for autism

by  /  2 August 2012

Several lines of converging evidence suggest that low-density lipoprotein receptor-related protein 2 (LRP2), which is involved in early patterning of the brain, is a risk gene for autism.

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