Tag: whole-exome sequencing

May 2019
Artists interpretation of machine learning and genes
News

Mutations between genes, long overlooked, may be key in autism

by  /  27 May 2019

Spontaneous mutations that occur between genes may be as important in autism as those within genes.

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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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A mother taking her two children to school
News

Genetic background may alter effect of autism mutations

by  /  4 May 2019

A person’s genetic makeup can ease or worsen the effect of mutations linked to 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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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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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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human making connections
Opinion / Viewpoint

Sharing genetic results can advance autism science, medical care

by ,  /  9 April 2019

People with autism and their families can be important partners in understanding the genetics of autism by agreeing to share their genetic data.

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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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