Tag: whole-exome sequencing

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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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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February 2019
Gabin and his father at home in Paris.
Features / Deep Dive

Europe’s race to ramp up genetic tests for autism

by  /  13 February 2019

Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.

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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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January 2019
Features / Deep Dive

Revelando los secretos del síndrome X frágil en Colombia

by  /  31 January 2019

Una remota ciudad colombiana es el hogar del grupo más grande de personas con síndrome de X frágil. Los científicos están aprendiendo de ellos y tratando de ayudar.

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Portrait of boy with autism
Features / Deep Dive

Why genetic tests matter for autistic people

by  /  30 January 2019

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

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