More than one-third of the spontaneous mutations linked to autism crop up in genomic segments that do not code for genes.
Spectrum: Autism Research News
Tag: whole-genome sequencing
Watch the complete replay of Brian O’Roak discussing the accelerating pace of autism genetics and new methods for identifying and validating autism risk genes.
Most methods used to scan the genome are missing thousands of complex variants that alter DNA structure and may contribute to autism risk.
Sequencing the whole genomes of individual mouse neurons reveals that each cell carries roughly 100 unique mutations.
Taking a close look at people who have a mutation in a known autism gene may reveal why these people often have vastly different characteristics.
The proposed guidelines would require scientists to destroy biological specimens if they don’t have the explicit consent of the participant for further use.
Two massive efforts to sequence the DNA of more than 11,000 people together provide the most detailed picture yet of genetic variation in the general population.