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Spectrum: Autism Research News

Tag: exome

December 2014

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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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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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 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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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

Mystery gene uncovered in autism studies may steer neurons

by  /  26 November 2014

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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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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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October 2014

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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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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