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The study aims to analyze genetic abnormalities related to autism spectrum disorder based on existing literature.

July 6, 2026BMC Medical GenomicsOpen Access

Genetic architecture of patients with autism spectrum disorder – data analysis based on the literature review

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Literature review analyzes genetic abnormalities in autism spectrum disorder, suggesting implications for diagnosis and treatment.

The study aims to analyze genetic abnormalities related to autism spectrum disorder based on existing literature.
Conducted a literature search in PubMed and Google Scholar
Included papers published from 2020, available in English, focusing on humans
Identified various types of genetic variation and their connections to autism
Identified genetic variations such as copy number variants and single nucleotide polymorphisms.
Highlighted the role of epigenetic factors like DNA methylation in ASD predisposition.
Current guidelines recommend several genetic testing methods, enhancing diagnostic accuracy for autism.

Ręka et al. (2026) studied this question.

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