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lluminating the Genetic Landscape of Autism with Whole Genome Sequencing

lluminating the Genetic Landscape of Autism with Whole Genome Sequencing

Exploring the Genetic Landscape of Autism


Autism Spectrum Disorder (ASD) is a group of neurodevelopmental conditions marked by difficulties in verbal and nonverbal communication, social interactions, and repetitive behaviours. ASD varies in its clinical presentation, with some individuals experiencing mild or no difficulties while others have severe symptoms and co-occurring conditions that affect their physical and mental health. ASD is genetically heterogeneous with a multitude of genes implicated, and this heterogeneity is the biggest challenge in diagnosis and treatment.

In the most comprehensive whole genome sequencing (WGS) analysis of autism to date, Canadian researchers at the Hospital for Sick Children have revealed new genes and genetic changes related to ASD, improving our understanding of the genomic basis of ASD. In the specific, the study identified 134 genes associated with ASD and discovered a variety of genetic changes, particularly gene copy number variations (repeated or deleted stretches of DNA), that are likely linked to autism.

By pinpointing the genetic factors in an individual with autism, the condition can be more accurately distinguished. With this understanding, personalized interventions can be designed, thereby enhancing the quality of life for autistic individuals and their families. Today, fully understanding the genetic factors involved in ASD requires whole-genome sequencing (WGS), which theoretically allows the detection of all types of genetic variants.


The Power of Whole Genome Sequencing for Autism: A Closer Look


Existing genetic tests for autism search for DNA insertions or deletions in large sections of the genome or examine changes in specific genes that have been associated with the disorder. However, these tests only identify 10% to 30% of cases. Genetics is believed to play a role in approximately 35% of autism cases based on family histories. According to a recent study published in Cell, researchers believe that analyzing a patient’s entire genome can provide a better understanding of the genetic abnormalities associated with autism. This could ultimately aid doctors in diagnosing the disorder. In this context, Whole Genome Sequencing (WGS) is a technique that can analyze a person’s entire DNA content. WGS has revolutionized the study of medical disorders and conditions by allowing for faster and more cost-effective collection, analysis, and archiving of data. Therefore, WGS can improve early diagnosis and provide insights for creating personalized therapy for subjects with ASD.

By conducting WGS on all affected individuals, the potential for discovery is maximized and a comprehensive analysis of all types of variants is facilitated, from the smallest DNA changes to those affecting entire chromosomes.


Unlocking the Potential of WGS for Autism with Dante Genomics


Whole Genome Sequencing (WGS) can identify genetic changes such as copy number variants and single nucleotide changes across the entire genome that may contribute to the development of Autism. By identifying specific genetic markers associated with the disorder, WGS can play a crucial role in managing autism and defining the risks of additional health problems related to a particular form of autism.

If an individual has known genes linked to autism spectrum disorders, WGS could expedite the diagnostic process. Additionally, DNA testing can aid in understanding how medications can be used to treat psychiatric and behavioural comorbidities that may co-occur with autism.

Dante Genomics, a leading global genomic information company, is at the forefront of unlocking the potential of WGS for Autism. They provide affordable clinical Whole Genome Sequencing (WGS) and lifetime access to genetic information. With a strong commitment to customer privacy and GDPR compliance, data is kept secure and never sold to third parties. More information can be found at


Take-home messages


  • Genetics plays a significant role in the development of autism, with over a hundred genes being associated with the condition. As research progresses and more low-impact DNA mutations linked to autism are discovered, this number is expected to increase;
  • Whole Genome Sequencing (WGS) can help to more accurately diagnose autism and provide valuable medical guidance to individuals with autism, their families, and their doctors. As a result, WGS can be a life-saving screening tool;
  • Fully understanding autism spectrum disorder (ASD) genetics requires WGS, and Dante Genomics provides comprehensive and affordable WGS for patients affected by Autism;
  • Identifying the genetic factors that contribute to the core symptoms and comorbidities of ASD can improve our understanding of its pathophysiology. This can lead to earlier detection of associated comorbidities and allow for more personalized treatment options based on the individual’s genetic information;
  • Interested in learning more about the potential of Whole Genome Sequencing? Visit Dante Genomics’ website at


By Paduano Francesco, PhD




Trost, B., et al. (2022) Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell.

C Yuen et al., (2017). Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature neuroscience, 20(4), 602-611. Doi: 10.1038/nn.4524

Wiśniowiecka-Kowalnik, B., & Nowakowska, B. A. (2019). Genetics and epigenetics of autism spectrum disorder—current evidence in the field. Journal of applied genetics, 60, 37-47.

Huang, J. et al.  (2022). A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder. Cells11(1), 10.

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