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Spectrum: Autism Research News

Tag: exome

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?

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

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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Some sibling sets arrive at autism with different mutations

by  /  5 February 2015

Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.

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January 2015

Small snippets of genes may have big effects in autism

by  /  22 January 2015

Small pieces of DNA within genes, dubbed ‘microexons,’ are abnormally regulated in people with autism, suggests a study of postmortem brains.

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