Tag: rare variants

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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April 2018
Opinion / Viewpoint

For accurate results in autism, genetic databases need diversity

by ,  /  10 April 2018

We must diversify databases of reference DNA to improve our ability to interpret the consequences of genetic variation.

0 Comments
March 2018
Opinion / Viewpoint

‘Outdated’ mouse model exposes key disruptions in autism brain

by  /  21 March 2018

A mouse model based on exposure to an epilepsy drug offers a useful window into the brain circuits altered in autism.

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February 2018
Newly flagged genes for developmental conditions (triangles) cluster in networks with previously identified risk factors (circles).
News / Toolbox

New software mines data for autism risk genes

by  /  16 February 2018

An algorithm combs through genetic data to identify variants involved in autism and four other brain conditions.

0 Comments
Short video of the words "autism" changing to "ADHD"
Features / Deep Dive

Decoding the overlap between autism and ADHD

by  /  7 February 2018

Autism and attention deficit hyperactivity disorder often coincide, but the search for common biological roots has turned up conflicting evidence.

5 Comments
December 2017
Features / Special Reports / 2017: Year in review

Notable papers in autism research in 2017

22 December 2017

This year’s list of top papers highlights nuances in the genetics of autism and new leads on early treatment.

1 Comment