Tag: whole-exome sequencing

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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James at his home in Salt Lake City
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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October 2018
News

Massive sequencing project identifies new genetic syndromes

by  /  23 October 2018

The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.

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A boy toddler learns to walk with an adult holding his hands.
News

Some ‘autism genes’ show stronger ties to related conditions

by  /  17 October 2018

The largest autism sequencing study to date implicates 99 genes in the condition — but nearly half have a tighter link to intellectual disability or developmental delay.

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Juan Pablo Quintero, Sara Quintero, Soledad Quintero, Rosario Quintero, Yeison Quintero, pose for a group portrait in Ricaurte, Valle del Cauca, on July 28, 2018.
Features / Deep Dive

Unlocking the secrets of fragile X in Colombia

by  /  10 October 2018

A remote Colombian town is home to the world’s largest cluster of people with fragile X syndrome. Scientists are learning from them — and trying to help.

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DNA helix with two mutations glowing blue on the helices. Rebecca Horne
News

Study links subset of genetic variants to autism, intellectual disability

by  /  3 October 2018

Genetic variants across the genome contribute to about 8 percent of the risk for certain developmental conditions — much more than previously thought.

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July 2018
News

Studies unveil hidden ties between epilepsy gene and autism

by  /  23 July 2018

Over the past year, HNRNPU, a gene well known for its link to epilepsy, has emerged as a new autism candidate.

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News

New approach predicts impact of mild mutations in autism

by  /  11 July 2018

A new method enables researchers to assess the biological impact of thousands of subtle mutations.

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