Tag: sequencing

March 2019
Multimedia / Podcasts

Spectrum Stories: The benefits of genetic testing in autism

by  /  18 March 2019

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

0 Comments
February 2019
RNA molecules illustration
News

‘Editing’ of RNA may play sizeable role in autism

by  /  14 February 2019

People with autism may show scant activity in a poorly understood molecular process thought to regulate gene expression.

0 Comments
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.

0 Comments
January 2019
James at his home in Salt Lake City
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.

0 Comments
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.

0 Comments
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.

0 Comments
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.

0 Comments
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.

0 Comments
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.

0 Comments
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.

0 Comments