Tag: whole-exome sequencing

August 2015
News / Toolbox

Software forecasts effects of mysterious mutations

by  /  26 August 2015

A new computer program predicts the effects of mutations in regions of the genome that control gene expression. Researchers can use the tool, called DeepBind, to gauge whether autism-linked mutations might block the genetic landing strips for regulatory proteins.

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News

Control centers for genes rife with autism-linked DNA blips

by  /  3 August 2015

DNA sequences called enhancers — which boost the expression of genes from within or outside them — are enriched for genetic variants linked to autism, suggests a new study. The finding may help researchers understand how variants outside genes contribute to autism.

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June 2015
News

Boys with autism inherit mutations from unaffected mothers

by  /  1 June 2015

Rare inherited mutations may contribute to autism in roughly 10 percent of boys with the disorder, according to a study published 11 May in Nature Genetics. These genetic glitches are primarily passed down from unaffected mothers.

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May 2015
News

Rare regressive disorder is not autism, new findings suggest

by  /  15 May 2015

Children who are diagnosed with autism after drastically and suddenly losing cognitive abilities may actually have a distinct disorder, according to data presented yesterday at the 2015 International Meeting for Autism Research in Salt Lake City, Utah.

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Week of AprilApr
27th
2015
News / Spotted

Spotted: Peer power; N of 1

by  /  1 May 2015

Peer review panels really can suss out good science, and clinical trials could get extremely personal.

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February 2015
Multimedia / Webinars

Kathryn Roeder reviews statistical tools for autism

18 February 2015

Watch the complete replay of Kathryn Roeder’s webinar discussing how powerful statistical tools can yield insight into the genetic risk for autism.

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News

Some sibling sets arrive at autism with different mutations

by  /  5 February 2015

Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.

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December 2014
Features / Special Reports / 2014 Year in review

Notable papers of 2014

22 December 2014

It’s no easy feat to whittle down the list of the most influential autism papers to a mere 10. So please consider this but a taste of the burgeoning field, presented in chronological order and based on suggestions from many researchers.

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Features / Special Reports / 2014 Year in review

Editors’ picks: Our favorite stories from 2014

22 December 2014

This year was full of big headlines in autism research. But the biggest stories aren’t necessarily the best — here are some gems you may have missed over the year.

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News

Method predicts impact of DNA variants on gene expression

by  /  18 December 2014

A new computational approach predicts how sequence variations in both the coding and noncoding regions of a gene affect the gene’s expression. The method, described today in Science, may help researchers understand how specific variants contribute to disorders such as autism.

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