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The Use of Single-Cell and Spatial Omics to Study Copy Number Variants.

Biological psychiatry - 1 Mar 2026

Malwade Susmita, Ingason Andrés, Khodosevich Konstantin

Abstract excerpt

Copy number variants (CNVs) are structural genomic rearrangements that alter the number of gene copies in a genome. Some CNVs are highly penetrant for psychiatric disorders, where the total CNV impact to a neuropsychiatric phenotype is based on potential contribution from every gene it encompasses. However, it can be challenging to associate the typically numerous genes within the CNV to a mechanistic...

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PMID: 40545020
DOI: 10.1016/j.biopsych.2025.06.010

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