Tag: exome

March 2019
Multimedia / Podcasts

Spectrum Stories: The benefits of genetic testing in autism

by  /  18 March 2019

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

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February 2019
Gabin and his father at home in Paris.
Features / Deep Dive

Europe’s race to ramp up genetic tests for autism

by  /  13 February 2019

Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.

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January 2019
Portrait of boy with autism
Features / Deep Dive

Why genetic tests matter for autistic people

by  /  30 January 2019

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

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October 2018
letters and numbers made out of mice, MRIs and other materials.
News

For studies, size matters: Let us count the ways

by  /  17 October 2018

In autism research, as in other fields, small sample sizes can lead to false findings. The size of the sample needed for statistical significance depends on the type of study.

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Modifier genes may enhance or diminish the effects of a mutation linked to autism.
News

Second ‘hits’ may explain autism mutations’ varied effects

by  /  5 October 2018

People who have a mutation linked to autism plus a second genetic glitch tend to have more severe symptoms than those with the mutation alone.

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April 2018
scientific illustration of protein mutations
News / Toolbox

Web-based tools reveal mutations’ effects on proteins

by  /  27 April 2018

Two new online resources help researchers predict how mutations alter protein structure.

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March 2018
Neurons from mice missing OTUD7A (right) have fewer spines than do those from controls (left).
News

Studies pinpoint key gene in region linked to autism

by  /  21 March 2018

A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.

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October 2017
Boy staring at fidget spinner
News

Risk genes for autism overlap with those for attention deficit

by  /  20 October 2017

People with attention deficit hyperactivity disorder may carry certain rare, harmful mutations in many of the same genes as people with autism.

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September 2017
Illustration of DNA in cross stitch pattern
News

Sizeable fraction of autism risk traced to ‘mosaic’ mutations

by  /  14 September 2017

Mutations that appear in only some of the body’s cells contribute to autism in about 4 percent of people with the condition.

3 Comments
Black and white portraits of Rebecca Lim and Erin Barnard.
Multimedia / Webinars

Journal club: Mosaic mutations in autism

9 October 2017

Watch the complete replay of this journal club, which featured two papers on mosaic mutations in autism.

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