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Tag: SNPs

April 2016
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
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
December 2015
News

Analysis unearths common genetic roots for disparate traits

by  /  4 December 2015

Using a new genetic approach, researchers are finding shared risk factors for seemingly unrelated conditions, ranging from autism to obesity.

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September 2015
News

Large genome scan turns up new autism addresses

by  /  29 September 2015

An analysis of blood samples from nearly 17,000 individuals with autism points to new regions of the genome likely to be involved in the disorder.

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August 2015
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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February 2015
News

Study downgrades autism gene’s effects to rare glitches

by  /  16 February 2015

After eight years of prominence as an autism risk gene, a new analysis significantly brings down CNTNAP2’s importance in the disorder: According to the study, rare mutations in a single copy of the gene are unlikely to cause autism. 

11 Comments
December 2014
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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News

Sequencing study clarifies impact of autism mutations

by  /  15 December 2014

Researchers are taking a second look at dozens of autism candidate genes, sequencing them in thousands of individuals to bolster the evidence linking them to autism.

1 Comment
October 2014
News

Massive sequencing database helps interpret mutations’ role

by  /  23 October 2014

Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.

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News

Whole-genome sequencing reveals new types of autism risk

by  /  20 October 2014

Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequence analysis. That’s the upshot of preliminary results from three studies presented yesterday at the American Society of Human Genetics Annual Meeting in San Diego.

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