Tag: sequencing

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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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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children playing at a genetic family group meeting
Features / Deep Dive

How families are driving the study of autism genes

by  /  10 April 2019

Parents of children with rare autism-linked mutations are banding together for support and to join forces with scientists, accelerating the pace of research.

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Illustration of a human fetus in a screening test
News

Prenatal sequencing for some autism genes may soon be available

by  /  10 April 2019

Two new studies point to the possibility of detecting autism mutations before birth — along with all the ethical and logistical problems that may bring.

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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
News / Toolbox

New maps plot hot spots of diversity across human genome

by  /  29 March 2019

A pair of maps that depict variation in the human genome may help reveal the genetic roots of autism.

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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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February 2019
RNA molecules illustration
News

‘Editing’ of RNA may play sizeable role in autism

by  /  14 February 2019

People with autism may show scant activity in a poorly understood molecular process thought to regulate gene expression.

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News

Analysis pinpoints genes linked to autism, developmental delay

by  /  6 February 2019

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.

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