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Spectrum: Autism Research News

Tag: whole-exome sequencing

May 2016
Illustration shows doctors in Libya looking at a city, with children standing in the foreground.

The gene hunters

by  /  18 May 2016

Criss-crossing the globe on a quest for unusual DNA, researchers have discovered a rare mutation that promises insights into both epilepsy and autism — and points to a treatment.

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April 2016

‘Silent’ mutations may contribute to autism, schizophrenia

by  /  29 April 2016

Mutations in genes that seemingly don’t affect the corresponding proteins may still boost autism risk.


Webinar: Brian O’Roak discusses the accelerating pace of autism genetics

 /  27 April 2016

Watch the complete replay of Brian O’Roak discussing the accelerating pace of autism genetics and new methods for identifying and validating autism risk genes.


How to mine treasure troves of genetic data

by  /  5 April 2016

Collaboration and transparency will be key as scientists sort through thousands of whole genomes of people with autism for genetic clues.

March 2016

Spectrum of autism traits spans general population

by  /  23 March 2016

Genetic variants linked to autism influence social skills in people without the condition, supporting the notion that autism lies along a continuum of typical traits.

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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.

February 2016

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.

January 2016

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.

December 2015

Hot topics of 2015

by  /  22 December 2015

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


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.