Skip to main content

Spectrum: Autism Research News

Tag: whole-exome sequencing

November 2014

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of the 15q11-13 chromosomal region shares a molecular signature with more common forms of the disorder, suggests unpublished research presented yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.

2 Comments

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.

1 Comment
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.

8 Comments

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.

0 Comments

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.

0 Comments

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.

1 Comment

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.

6 Comments

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.

0 Comments

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.
 

13 Comments

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.)

0 Comments