Tag: sequencing

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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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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News

Massive analysis refines map of autism’s genetic roots

by  /  19 December 2018

The largest genetic analysis of postmortem brain tissue to date has yielded maps of when and where genes related to autism are turned on and off throughout life.

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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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