Tag: sequencing

December 2018
microsopy of human sperm
News

Study suggests Rett syndrome doesn’t always arise spontaneously

by  /  13 December 2018

Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.

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Microscopic view of spermatozoa
News

Some autism mutations go undetected, new study suggests

by  /  5 December 2018

Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

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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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RNA sequences in yellow and blue.
News / Toolbox

Tool analyzes mysterious set of RNAs for clues to function

by  /  9 November 2018

A software tool finds possible functions for long RNA molecules that aren’t transcribed into proteins.

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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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