Tag: SNPs

February 2019
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
illustration shows woman under umbrella, with genes falling like rain
Opinion / Viewpoint

Expliquer la résilience à l’autisme peut faire naître de nouvelles thérapies

by  /  18 January 2019

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 253 genes in one or both conditions; 49 of the genes are new candidates1. The study pools data from individuals with either diagnosis — an approach that increases the numbers, and strengthens the validity of the associations. “In terms of […]

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News / Toolbox

Method unravels Rett mutation’s effects on specific brain cells

by  /  11 January 2019

A new technique may reveal how mutations on the X chromosome alter various types of cells in the brain.

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December 2018
Brain images
News / Toolbox

Large U.K. database reveals links between genes and brain function

by  /  21 December 2018

A newly expanded database of information from people in the United Kingdom provides a detailed picture of genetic diversity.

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November 2018
Large group of different lab mice: white mice, black and white mice and light brown mice, all in a cage on wood chips.
News / Toolbox

Database compares protein function across dozens of mouse strains

by  /  23 November 2018

A new resource details the protein-coding portions of the genomes of 36 popular mouse strains.

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October 2018
Two children picking mushrooms in a field.
News

Genetics plays outsized role in autism, large study shows

by  /  15 October 2018

Autism is more heritable than anorexia, alcohol dependence, depression and obsessive-compulsive disorder, according to an analysis of data from nearly 4.5 million people.

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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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September 2018
A collage of a DNA helix with two of the bars showing a different color. by Rebecca Horne
News

Control of gene expression alters impact of autism mutations

by  /  27 September 2018

Variants that control gene expression are often involved in whether a mutation ends up being harmful, and how harmful it is.

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DNA twisting in black space
News / Toolbox

Two tools speed the search for mutations in whole genomes

by  /  14 September 2018

Software to identify genetic variants, along with a new synthetic human genome, could help scientists discover mutations associated with conditions such as autism.

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July 2018
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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