Tag: whole-exome sequencing

May 2018
Diagram statistics
News

Analysis of sequences pegs 99 top autism genes

by  /  10 May 2018

The number of top autism genes has risen from 65 to 99, based on an analysis of nearly 35,000 sequences. And researchers are seeing the first hints of autism risk variants in the regions between genes.

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April 2018
mutations in their mitochondrial genome
News

Mounting evidence links mitochondrial DNA to autism

by  /  5 April 2018

Genetic variants that affect mitochondria, the organelles that power cells, may increase the risk of autism.

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March 2018
Neurons from mice missing OTUD7A (right) have fewer spines than do those from controls (left).
News

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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October 2017
Boy staring at fidget spinner
News

Risk genes for autism overlap with those for attention deficit

by  /  20 October 2017

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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Week of OctoberOct
2nd
2017
News / Spotted

Cannabis candidate; omega add-on; oxytocin control and more

by  /  6 October 2017

A cannabis gel may ease features of fragile X syndrome, omega fatty acids show promise for autism in two trials, and oxytocin reinforces social behaviors through the brain’s reward pathway.

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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.

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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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