Tag: whole-exome sequencing

October 2014
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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News

Web of genes may hold clues for autism treatments

by  /  20 October 2014

Many of the genes that have emerged as the strongest autism candidates have turned out to regulate the expression of hundreds, if not thousands, of other genes. Within these networks, scientists are homing in on pathways that underlie autism.

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News / Toolbox

Paired genetic analysis may pare down list of autism genes

by  /  15 October 2014

Combining analysis of large deletions or duplications in the genome with sequences from protein-coding regions can identify new syndromes, as well as the mutations that cause those disorders, according to a report published 14 September in Nature Genetics.

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News

Brain development gene emerges as strong autism candidate

by  /  2 October 2014

Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
 

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Multimedia / Webinars

Mark Daly maps the genetic architecture of autism

1 October 2014

On 1 October, Mark Daly discussed new insights into autism from common and rare genetic variants. (Due to technical issues, the video replay for this webinar is unavailable.)

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September 2014
Opinion

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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News

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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News

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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News / Toolbox

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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News

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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