Tag: whole-exome sequencing

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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Opinion

Sequencing may offer smoother sailing in diagnostic odyssey

by  /  16 December 2014

Getting to a diagnosis of autism or another neurodevelopmental disorder is a long and frustrating experience for some families — especially when it comes to finding the underlying genetic cause. DNA sequencing could ease this arduous journey.

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Opinion / Viewpoint

Future of autism genetics should learn from its past

by  /  9 December 2014

To optimize the search for autism genes, researchers should collect large numbers of sequences — but the sequences need to be of the right kind, says Michael Ronemus.

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November 2014
News

Mystery gene uncovered in autism studies may steer neurons

by  /  26 November 2014

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Features / Deep Dive

Genetics first: A fresh take on autism’s diversity

by  /  24 November 2014

Each child with autism is different from the next. One approach rapidly gaining momentum makes sense of this diversity by grouping children together based on their genetics, then looking for patterns in their symptoms. The long-term aim: personalized treatments for each subtype of autism.

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News

Different autism subtypes share same genetic signature

by  /  20 November 2014

A rare form of autism linked to a duplication of the 15q11-13 chromosomal region shares a molecular signature with more common forms of the disorder, suggests unpublished research presented yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.

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News

New tool lays out links between genes, mice, behavior

by  /  17 November 2014

A new database bridges the gap between candidate genes identified by sequencing studies and mouse models that can help reveal the genes’ role in various disorders. Researchers presented the tool today at the 2014 Society for Neuroscience annual meeting in Washington, D.C.

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October 2014
News

Massive sequencing studies reveal key autism genes

by  /  29 October 2014

Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported today in Nature.

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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

Scientists plan to release thousands of whole autism genomes

by  /  21 October 2014

Researchers have sequenced the whole genomes of 1,000 people with autism and their parents, they announced yesterday at the American Society of Human Genetics Annual Meeting in San Diego. These sequences, and another 1,000 that are on the way, will eventually be freely available online.

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