Tag: whole-exome sequencing

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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August 2017
A family holding hands and walking down the sidewalk.
News / Toolbox

Whole genomes may power search for autism risk factors

by  /  23 August 2017

Scientists this week announced the release of nearly 7,000 whole-genome sequences from a collection of families that each have one child with autism.

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Week of JulyJul
31st
2017
News / Spotted

Autism unsurprised; diagnostic camouflage; Neanderthal legacy and more

by  /  4 August 2017

People with autism aren’t easily surprised, the social camouflage some girls and women with autism use may preclude diagnosis, and autism-related genes are rooted deep in human ancestry.

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July 2017
News

Large study shines spotlight on ‘mosaic’ mutations in autism

by  /  19 July 2017

About 8 percent of non-inherited mutations in people with autism occur in only some of the body’s cells, according to a study of 20,000 people.

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News

Massive collaboration unearths inherited risk factor for autism

by  /  17 July 2017

Autism runs in families, but the search for inherited risk factors has come up short — until now.

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June 2017
DNA inside of human form
News

Autism genetics, explained

by  /  27 June 2017

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

1 Comment
Opinion / Viewpoint

Whole genomes may hold clues to autism, but patience is key

by ,  /  27 June 2017

We finally have access to whole-genome sequences from people with autism. But before we can properly interpret these data, we need to know what we’re looking for.

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News

In race to crack autism’s code, two contenders shoot ahead

by  /  27 June 2017

Two candidate genes have risen to the top, and may help scientists understand what autism really is.

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News

Rare form of regression is distinct from most autism

by  /  1 June 2017

A rare condition marked by a sudden and profound loss of skills is biologically distinct from other forms of autism.

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