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Tag: copy number variation

July 2020
Man working from home office.
News

INSAR 2020, from home

by  /  31 July 2020

Like so many other events this year, autism’s biggest annual conference — the International Society for Autism Research meeting — was forced to go virtual because of the coronavirus pandemic.

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May 2020
News

Rare mutations in autism genes tied to intellectual disability

by  /  22 May 2020

A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.

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February 2020
News

Large mutations may explain diverse outcomes from autism gene

by  /  24 February 2020

Deletions and duplications of long stretches of DNA may increase the likelihood of autism in people who have a mutation in a gene called PTEN.

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December 2019
Mother mouse with pups on white
News

Multiple genes may conspire to lead to autism traits

by  /  23 December 2019

The many genes implicated in Williams syndrome, a condition related to autism, may all work together to exert their effects on behavior.

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variants across the genome are shown in a wheel shaped visualization
News / Toolbox

New database catalogs variants in autism genes

by  /  13 December 2019

A new database cross-checks study participants to avoid double-counting variants linked to autism genes.

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September 2019
News

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
A DNA helix showing common and rare variants
News

The multiple hits theory of autism, explained

by  /  1 May 2019

Researchers are studying how a combination of genetic ‘hits’ may contribute to autism’s diversity.

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April 2019
Hands on background of microarray and other genetic information
News

Genetic testing for autism, explained

by  /  10 April 2019

No genetic test can say whether a person has autism, but it may point to a cause for the condition or for any related complications.

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DNA
News

Repeats of certain DNA segments may align with autism severity

by  /  3 April 2019

Certain repeated stretches of DNA that are linked to the expansion of the primate brain may also enhance autism traits.

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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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