Tag: rare variants

May 2019
Computational Modeling of BRSK2 Missense Variants
News

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.
News / Toolbox

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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News

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

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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September 2018
A collage of a DNA helix with two of the bars showing a different color. by Rebecca Horne
News

Control of gene expression alters impact of autism mutations

by  /  27 September 2018

Variants that control gene expression are often involved in whether a mutation ends up being harmful, and how harmful it is.

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DNA twisting in black space
News / Toolbox

Two tools speed the search for mutations in whole genomes

by  /  14 September 2018

Software to identify genetic variants, along with a new synthetic human genome, could help scientists discover mutations associated with conditions such as autism.

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August 2018
Multimedia / Webinars

Journal club: Rare genetic variation in brain conditions

6 August 2018

Watch the complete replay of this journal club, which featured a paper exploring rare genetic variation in psychiatric conditions, including autism.

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