Researchers have launched an effort to yoke together disparate gene sequencing projects in the U.S., Canada and the U.K., aiming to double the number of known autism-related genes in the next three to four years.
Spectrum: Autism Research News
Tag: whole-exome sequencing
By sequencing the protein-coding region of the genome of a single affected family member, researchers were able to diagnose 20 percent of people in 85 consanguineous families with unknown neurodevelopmental disorders, according to research published 13 June in Science Translational Medicine.
To find the pathogenic mutations in complex disorders such as autism, researchers may need to conduct sophisticated analyses of the genetic functions that are disrupted, says geneticist Aravinda Chakravarti.
By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.
Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell.
Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.
The largest set of exome sequencing studies of children with autism and their families to date has identified a handful of genes that may increase risk of the disorder, according to research published in Nature.
As the amount of genomics and other data rapidly grows, researchers are turning to cloud computing; commercial services for remote data storage and processing that allow even those with little infrastructure to handle big data.