A study led by SickKids has sequenced the entire genomes of over 11,000 individuals, providing new insights into the genetic factors associated with autism spectrum disorder. The Hospital for Sick Children (SickKids) researchers have revealed new genes and genetic changes related to autism spectr
Autism spectrum disorder is a complex neurodevelopmental disorder that affects how a person communicates and interacts with others, as well as how they perceive and respond to the world around them. Symptoms of ASD can range from mild to severe and can include difficulty with social interactions, difficulty with verbal and nonverbal communication, repetitive behaviors, and other unique challenges.
The Hospital for Sick Children researchers have revealed new genes and genetic changes related to autism spectrum disorder in the most comprehensive whole genome sequencing analysis of autism to date, improving our understanding of the genomic basis of ASD., utilized whole genome sequencing to analyze the entire genomes of over 7,000 individuals with autism and an additional 13,000 siblings and family members.
“By sequencing the entire genome of all participants, and with deep involvement from the participating families in MSSNG on forming our research priorities, we maximize the potential for discovery and allow analysis that encompasses all types of variants, from the smallestchanges to those that affect entire chromosomes,” says Dr. Stephen Scherer, Senior Scientist, Genetics & Genome Biology and Chief of Research at SickKids and Director of the McLaughlin Centre at theDr.
“This suggests that autism in multiplex families may be more likely to be linked to rare, highly impactful variants inherited from a parent. Because both the genetics and clinical traits associated with autism are so complex and varied, large data sets like the ones we used are critical to providing researchers with a clearer understanding of the genetic architecture of autism,” says Trost.
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