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Spectrum: Autism Research News

Tag: SNPs

September 2015

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

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

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. 

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December 2014

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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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.

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October 2014

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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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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September 2014

New algorithm detects DNA insertions and deletions

by  /  10 September 2014

A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.

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August 2014

Should autism research focus on common or rare risk factors?

by  /  20 August 2014

New estimates on the role of common mutations in autism raise questions about how to quantify and parse genetic risk. Three experts say both common and rare variants are worth pursuing.
 

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July 2014

Schizophrenia milestone holds lessons for autism

by  /  21 July 2014

A long-awaited report, published today in Nature, confirms that with access to tens of thousands of genomes, researchers can identify common genetic risk factors for a complex neuropsychiatric disorder.

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