Tag: whole-exome sequencing

March 2016
Opinion / Q&A

Questions for Thomas Bourgeron: In search of ‘second hits’

by  /  1 March 2016

Taking a close look at people who have a mutation in a known autism gene may reveal why these people often have vastly different characteristics.

5 Comments
February 2016
News

Spaces near genes may harbor pitfalls for autism

by  /  15 February 2016

Children with autism tend to carry variants in stretches of DNA that flank autism genes.

2 Comments
January 2016
News / Profiles

Rising star: Brian O’Roak brings ‘A’ game to autism genetics

by  /  21 January 2016

Brian O’Roak has helped to steer some of the largest, most complex studies of autism genetics to date.

0 Comments
December 2015
Features / Special Reports / 2015 Year in review

Hot topics of 2015

22 December 2015

Here’s a rundown of five trending topics that are turning traditional assumptions about autism on their head.

0 Comments
News / Toolbox

Method marks variants among repeated DNA segments

by  /  9 December 2015

A new tool trawls sequencing data to reveal single-letter DNA swaps within large duplications.

0 Comments
November 2015
News / Toolbox

Long-awaited databases reveal breadth of genetic variation

by  /  4 November 2015

Two massive efforts to sequence the DNA of more than 11,000 people together provide the most detailed picture yet of genetic variation in the general population.

0 Comments
October 2015
News

Analysis makes sense of missense mutations’ role in autism

by  /  12 October 2015

Analyzing thousands of sequences, researchers have homed in on miniscule portions of the genome that may be crucial in determining autism risk.

0 Comments
News

Dispatches from ASHG 2015

by  /  9 October 2015

These short reports from our reporter, Jessica Wright, give you the inside scoop on developments at the 2015 American Society of Human Genetics Annual Meeting.

0 Comments
News

Twin study unearths clues to role of environment in autism

by  /  8 October 2015

Researchers in Sweden are assembling a large group of identical twin pairs, with only one twin in each pair having autism.

0 Comments
News

Sequencing studies sharpen focus on key autism genes

by  /  1 October 2015

Two studies prioritize autism risk genes for further research and illuminate how different types of mutations may work together.

2 Comments