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Tag: exome

November 2020
Group of DNA helixes are seen on black
News

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

by  /  2 November 2020

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

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October 2020
News

Reactions from ASHG 2020

by  /  30 October 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

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August 2020
Fat in bloodstream visualized as yellow balls, floating near blood cells, macro view.
News

Blood lipid levels may be altered in some autistic people

by  /  10 August 2020

About 6.5 percent of autistic people in the United States also have dyslipidemia, a condition characterized by abnormal lipids levels in the blood.

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Young child on her bed looking at a book.
News

Studies unravel diversity of traits tied to chromosome 16 mutations

by  /  3 August 2020

Two new analyses help to explain why mutations to the chromosomal region 16p11.2 can lead to autism, intellectual disability or language difficulties.

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June 2020
A genome data set shows colorful clusters by ancestry
News / Toolbox

Massive genomic database helps decode mutations’ effects

by  /  24 June 2020

A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

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April 2020
Microscopic view of neurons
News

Mutations in autism gene linked to distinct conditions

by  /  3 April 2020

Individuals with mutations in an autism gene called TRIO may have a range of conditions, including intellectual disability and anomalous head size.

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November 2019
Boy staring at fidget spinner
News

Risk genes for autism overlap with those for attention deficit

by  /  25 November 2019

People with attention deficit hyperactivity disorder may carry certain rare, harmful mutations in many of the same genes as people with autism.

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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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January 2019
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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