Tag: sequencing

October 2018
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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News / Toolbox

Rapid method connects DNA shape to gene activity in cells

by  /  12 October 2018

A new technique reveals the active genes and the regions that regulate them in thousands of single cells at once.

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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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Three games on a table, bead mazes.
News

How genetics is revealing rare childhood conditions

by ,  /  21 September 2018

A pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world.

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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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News

Charting one cell at a time, scientists reveal brain’s vast diversity

by  /  3 September 2018

How many cell types does the brain contain? Two new mouse studies bring scientists closer to the answer.

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July 2018
A red and blue pattern of genes.
News / Toolbox

Algorithm flags harmful mutations in single copies of genes

by  /  20 July 2018

A new tool can predict a genetic problem called ‘haploinsufficiency’ in which a mutation impairs the function of one copy of a gene.

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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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May 2018
Visualization of networks of individual neurons in the brain.
News / Toolbox

New map reveals web of connections from single neurons

by  /  18 May 2018

A new map reveals the routes of individual neurons in visual regions of the mouse brain.

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Woman's face with the eyes covered by hand shapes, with a DNA helix in the background, and a judge's gavel.
News

Patent on autism genetic test may stifle science

by  /  17 May 2018

A patent on variants in an autism gene is unlikely to hold up in court, but may still hinder research, some experts say.

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