Nature Communications (Oct 2022)
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
- Ada J. S. Chan,
- Worrawat Engchuan,
- Miriam S. Reuter,
- Zhuozhi Wang,
- Bhooma Thiruvahindrapuram,
- Brett Trost,
- Thomas Nalpathamkalam,
- Carol Negrijn,
- Sylvia Lamoureux,
- Giovanna Pellecchia,
- Rohan V. Patel,
- Wilson W. L. Sung,
- Jeffrey R. MacDonald,
- Jennifer L. Howe,
- Jacob Vorstman,
- Neal Sondheimer,
- Nicole Takahashi,
- Judith H. Miles,
- Evdokia Anagnostou,
- Kristiina Tammimies,
- Mehdi Zarrei,
- Daniele Merico,
- Dimitri J. Stavropoulos,
- Ryan K. C. Yuen,
- Bridget A. Fernandez,
- Stephen W. Scherer
Affiliations
- Ada J. S. Chan
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Worrawat Engchuan
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Miriam S. Reuter
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Zhuozhi Wang
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Bhooma Thiruvahindrapuram
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Brett Trost
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Thomas Nalpathamkalam
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Carol Negrijn
- Provincial Medical Genetics Program, Eastern Health
- Sylvia Lamoureux
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Giovanna Pellecchia
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Rohan V. Patel
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Wilson W. L. Sung
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Jeffrey R. MacDonald
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Jennifer L. Howe
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Jacob Vorstman
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Neal Sondheimer
- Department of Molecular Genetics, University of Toronto
- Nicole Takahashi
- Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri
- Judith H. Miles
- Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri
- Evdokia Anagnostou
- Department of Pediatrics, University of Toronto
- Kristiina Tammimies
- Department of Women’s and Children’s Health, Karolinska Institutet
- Mehdi Zarrei
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Daniele Merico
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Dimitri J. Stavropoulos
- Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children
- Ryan K. C. Yuen
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- Bridget A. Fernandez
- Provincial Medical Genetics Program, Eastern Health
- Stephen W. Scherer
- The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children
- DOI
- https://doi.org/10.1038/s41467-022-34112-z
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 16
Abstract
Morphological subtypes of autism spectrum disorder (ASD) may differ in their genetic bases. Chan et al. develop a method for calculating a patient-level, genome-wide rare variant score and find significant differences in rare and common variant associations between dysmorphic and nondysmorphic ASD groups.
