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Spectrum: Autism Research News

Tag: whole-exome sequencing

September 2014

Study uncovers link between autism risk gene, language

by  /  30 September 2014

Mutations in TBR1, a candidate gene for autism, compromise its functions and its ability to bind its partners — including FOXP2. Alan Packer explores the gene’s emerging link to language.

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SHANK3 mutations turn up in high proportion of autism cases

by  /  18 September 2014

About 2 percent of people who have both autism and intellectual disability carry harmful mutations in SHANK3, a protein that helps organize the connections between neurons, according to a study published 4 September in PLoS Genetics.

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Analysis predicts odds of mutations’ link to autism

by  /  11 September 2014

A new method of statistical analysis can predict whether a rare mutation identified in someone with autism has a meaningful association with the disorder or was found only by chance, researchers reported in the September issue of Nature Genetics.

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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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Sensitive sequencing methods pinpoint mosaic mutations

by  /  8 September 2014

Advanced sequencing methods can detect spontaneous genetic changes that show up in only a small subset of a person’s cells, suggest two new studies published in August. Despite their low prevalence in the body, these so-called ‘somatic mosaic mutations’ occur frequently in people and may be important contributors to brain disorders.

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Method organizes mitochondrial DNA sequences

by  /  3 September 2014

Researchers have put together a set of strategies and computer programs to identify mutations in mitochondrial DNA that contribute to disorders such as autism.

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June 2014

Access to gene sequences may be a spit sample away

by  /  30 June 2014

DNA extracted from saliva is just as useful for sequencing genes as is DNA from blood cells, according to a report published in April in BMC Genomics. The easy and inexpensive method would be a boon for studies that need to sequence large numbers of people.

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Great sequencing power — great responsibility

by ,  /  6 June 2014

Chris Gunter and Daniel MacArthur discuss guidelines for assessing the evidence that a genetic variant causes autism or another disorder.

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April 2014

Genetics: New autism mutations affect DNA packaging

by  /  8 April 2014

Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.

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January 2014

Study pinpoints autism gene in mutation-prone region

by  /  27 January 2014

Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published 7 January in the Proceedings of the National Academy of Sciences.

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