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Article

Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD.

Molecular autism - 1 Jun 2020

Drakulic Danijela, Djurovic Srdjan, Syed Yasir Ahmed, Trattaro Sebastiano, Caporale Nicolò, Falk Anna, Ofir Rivka, Heine Vivi M, Chawner Samuel J R A, Rodriguez-Moreno Antonio, van den Bree Marianne B M, Testa Giuseppe, Petrakis Spyros, Harwood Adrian J

Abstract excerpt

Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders...

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Identifiers

PMID: 32487215
DOI: 10.1186/s13229-020-00343-4
PMCID: PMC7268297

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