ArticleNature communications2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Autism data sharing: Benefits, challenges, and recommendations.PLOS digital health · 2026Review
- GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations.Heredity · 2026Article
- Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs.Nature genetics · 2025Article
- Performance of deep-learning-based approaches to improve polygenic scores.Nature communications · 2025Article
- Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non-Regressive Autism: A Cross-Sectional Study.Autism research : official journal of the International Society for Autism Research · 2025Article
- mAutism research : official journal of the International Society for Autism Research · 2025Article
- Contribution of autosomal rare and de novo variants to sex differences in autism.American journal of human genetics · 2025Article
- Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.BMC genomics · 2024Article
- Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.Genome research · 2024Article
- Contribution of autosomal rare andmedRxiv : the preprint server for health sciences · 2024Article
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.Genome medicine · 2024Review
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.Genome medicine · 2023Article
- Integrated analysis of endoplasmic reticulum stress regulators' expression identifies distinct subtypes of autism spectrum disorder.Frontiers in psychiatry · 2023Article
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Authors and funding
26 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the prediction of developmental outcomes. Based on minor physical and major congenital anomalies, we categorize 325 Canadian children with ASD into dysmorphic and nondysmorphic subgroups. We develop a method for calculating a patient-level, genome-wide rare variant score (GRVS) from whole-genome sequencing (WGS) data. GRVS is a sum of the number of variants in morphology-associated coding and non-coding regions, weighted by their effect sizes. Probands with dysmorphic ASD have a significantly higher GRVS compared to those with nondysmorphic ASD (P = 0.03). Using the polygenic transmission disequilibrium test, we observe an over-transmission of ASD-associated common variants in nondysmorphic ASD probands (P = 2.9 × 10
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