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Spectrum: Autism Research News

Tag: rare variants

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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Strand of DNA with bases being deleted

Autism-linked gene variants increase odds of attention deficit

by  /  18 November 2019

A collection of rare genetic variants associated with autism and schizophrenia also seem to increase a person’s odds of having attention deficit hyperactivity disorder.

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September 2019

DNA deletion boosts odds of autism, especially in girls

by  /  2 September 2019

The loss of 21 genes on chromosome 3 may substantially raise the risk of autism.

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May 2019
Computational Modeling of BRSK2 Missense Variants

Matchmaking site for genes leads scientists to autism candidate

by  /  6 May 2019

A website called GeneMatcher has helped researchers identify a new gene for intellectual disability, developmental delay and autism.

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Image of DNA made up of hundreds of tiny images in a mosaic effect.

New algorithm identifies rare mutations in single neurons

by  /  3 May 2019

A new computational method sifts true mutations from spurious ones in a single cell’s genome.

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The female protective effect, explained

by  /  1 May 2019

One of the leading theories of autism posits that girls and women are biologically protected from the condition.

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March 2019
Spectrum stories podcast logo.

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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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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DNA helix with two mutations glowing blue on the helices. Rebecca Horne

Study links subset of genetic variants to autism, intellectual disability

by  /  3 October 2018

Genetic variants across the genome contribute to about 8 percent of the risk for certain developmental conditions — much more than previously thought.

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