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Spectrum: Autism Research News

Tag: exome

June 2020
A genome data set shows colorful clusters by ancestry

Massive genomic database helps decode mutations’ effects

by  /  24 June 2020

A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

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April 2020
Microscopic view of neurons

Mutations in autism gene linked to distinct conditions

by  /  3 April 2020

Individuals with mutations in an autism gene called TRIO may have a range of conditions, including intellectual disability and anomalous head size.

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November 2019
Boy staring at fidget spinner

Risk genes for autism overlap with those for attention deficit

by  /  25 November 2019

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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March 2019

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.

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

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.

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.

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

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).

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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