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.
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.
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.
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.
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.)
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.
A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.
Researchers have put together a set of strategies and computer programs to identify mutations in mitochondrial DNA that contribute to disorders such as autism.
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.
Chris Gunter and Daniel MacArthur discuss guidelines for assessing the evidence that a genetic variant causes autism or another disorder.