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<p>Copy number variations (CNVs) are large structural alterations of the genome that can contribute significantly to the genetic basis of neurodevelopmental and neuropsychiatric conditions, including schizophrenia, autism spectrum disorder, and intellectual disability. Although CNVs are genomically diverse, many result in overlapping clinical features and molecular changes. We present a curated machine readable dataset, <i>CNVPathwayAtlas</i>, that integrates 38 pathogenic CNVs with their genomic coordinates, affected genes, molecular pathways, associated syndromes, and phenotypes. Each CNV is linked to a curated molecular pathway providing mechanistic insight into affected biological functions. This dataset is integrated with external resources including WikiPathways, Orphanet, HGNC, and the Human Phenotype Ontology, and designed for compatibility with bioinformatics workflows. This dataset provides a structured foundation for analyzing the molecular effects of CNVs, and facilitates exploration of shared disorder mechanisms, diagnosis, identification of therapeutic targets, and drug discovery in neurodevelopmental and neuropsychiatric disorders.</p>

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A dataset of rare copy number variants associated with neurodevelopmental and neuropsychiatric disorders

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年4月29日

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  • Alexandra Valeanu,
  • Yuanyuan Duan,
  • Javier Millán Acosta,
  • Theo M. de Kok,
  • Therese van Amelsvoort,
  • Friederike Ehrhart

摘要

Copy number variations (CNVs) are large structural alterations of the genome that can contribute significantly to the genetic basis of neurodevelopmental and neuropsychiatric conditions, including schizophrenia, autism spectrum disorder, and intellectual disability. Although CNVs are genomically diverse, many result in overlapping clinical features and molecular changes. We present a curated machine readable dataset, CNVPathwayAtlas, that integrates 38 pathogenic CNVs with their genomic coordinates, affected genes, molecular pathways, associated syndromes, and phenotypes. Each CNV is linked to a curated molecular pathway providing mechanistic insight into affected biological functions. This dataset is integrated with external resources including WikiPathways, Orphanet, HGNC, and the Human Phenotype Ontology, and designed for compatibility with bioinformatics workflows. This dataset provides a structured foundation for analyzing the molecular effects of CNVs, and facilitates exploration of shared disorder mechanisms, diagnosis, identification of therapeutic targets, and drug discovery in neurodevelopmental and neuropsychiatric disorders.