Tag: sequencing

November 2018
News

Some autism genes may be especially vulnerable to mutations

by  /  7 November 2018

A small number of autism genes are located in fragile regions of the genome — those prone to breaking when cells copy DNA.

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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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letters and numbers made out of mice, MRIs and other materials.
News

For studies, size matters: Let us count the ways

by  /  17 October 2018

In autism research, as in other fields, small sample sizes can lead to false findings. The size of the sample needed for statistical significance depends on the type of study.

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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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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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