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Spectrum: Autism Research News

Tag: exome

April 2016

‘Silent’ mutations may contribute to autism, schizophrenia

by  /  29 April 2016

Mutations in genes that seemingly don’t affect the corresponding proteins may still boost autism risk.

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Webinar: Brian O’Roak discusses the accelerating pace of autism genetics

 /  27 April 2016

Watch the complete replay of Brian O’Roak discussing the accelerating pace of autism genetics and new methods for identifying and validating autism risk genes.

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January 2016

Rising star: Brian O’Roak brings ‘A’ game to autism genetics

by  /  21 January 2016

Brian O’Roak has helped to steer some of the largest, most complex studies of autism genetics to date.

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December 2015

What’s the hardest part of an autism researcher’s job?

by  /  22 December 2015

Scientists dish about the biggest challenges they face as they tackle tough questions about autism.

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Hot topics of 2015

by  /  22 December 2015

Here’s a rundown of five trending topics that are turning traditional assumptions about autism on their head.

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Method marks variants among repeated DNA segments

by  /  9 December 2015

A new tool trawls sequencing data to reveal single-letter DNA swaps within large duplications.

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October 2015

Sequencing studies sharpen focus on key autism genes

by  /  1 October 2015

Two studies prioritize autism risk genes for further research and illuminate how different types of mutations may work together.

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August 2015

Control centers for genes rife with autism-linked DNA blips

by  /  3 August 2015

DNA sequences called enhancers — which boost the expression of genes from within or outside them — are enriched for genetic variants linked to autism, suggests a new study. The finding may help researchers understand how variants outside genes contribute to autism.

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June 2015

Boys with autism inherit mutations from unaffected mothers

by  /  1 June 2015

Rare inherited mutations may contribute to autism in roughly 10 percent of boys with the disorder, according to a study published 11 May in Nature Genetics. These genetic glitches are primarily passed down from unaffected mothers.

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February 2015

Study downgrades autism gene’s effects to rare glitches

by  /  16 February 2015

After eight years of prominence as an autism risk gene, a new analysis significantly brings down CNTNAP2’s importance in the disorder: According to the study, rare mutations in a single copy of the gene are unlikely to cause autism. 

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