Tag: whole-exome sequencing

October 2016
News

‘Synonymous’ mosaic mutations may up autism risk

by  /  20 October 2016

A type of mutation long thought to be harmless has turned out to play an unexpected role in autism.

0 Comments
September 2016
News

Novel software spots scores of new autism candidates

by  /  19 September 2016

Researchers have trained a computer algorithm to recognize the characteristics of autism genes.

4 Comments
News

Huge data-sharing venture lays bare human genetic variation

by  /  8 September 2016

A landmark collection of gene sequences from more than 60,000 people can help researchers spot mutations linked to autism.

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June 2016
News

As autism candidates emerge, cancer pathway rises to top

by  /  13 June 2016

Researchers are beginning to understand how mutations in a cancer-linked pathway called WNT contribute to autism.

2 Comments
May 2016
News

Mutations that arise in aging sperm add little to autism risk

by  /  23 May 2016

The mutations that men accumulate in their sperm as they age don’t account for most of their increased risk of having a child with autism.

1 Comment
Features / Deep Dive

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.

1 Comment
April 2016
News

‘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.

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Multimedia / Webinars

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.

2 Comments
Opinion / Cross Talk

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.

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March 2016
News

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.

1 Comment