Genetic study of cortical malformations - SNP-array

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dc.contributor.authorOliveira, Laiz Luiza Miranda de
dc.contributor.authorLopes-Cendes, Íscia Teresinha
dc.contributor.authorBonadia, Luciana Cardoso
dc.date2026-02-24
dc.date.accessioned2025-09-22
dc.date.accessioned2026-10-02T20:43:29Z
dc.descriptionThis dataset was generated using the SNP-array technique, applied to 48 patients with malformations of cortical development (MCDs). The method enables the detection of structural genomic alterations, particularly copy number variations (CNVs) and regions of homozygosity (ROH), providing a complementary perspective to exome sequencing for the characterization of genetic etiology. Samples were processed with the CytoScanHD kit (Affymetrix/Thermo Fisher Scientific) and scanned on the GeneChip®️ Scanner 3000 7G, following validated manufacturer protocols. Data were analyzed using the Chromosome Analysis Suite (ChAS, hg19) software. CNV calling followed manufacturer thresholds, with filters of 25 probes for deletions, 50 for duplications, and 100 kb minimum size. Variants were classified by comparison with control datasets and reference databases, including DGV, DECIPHER, ClinGen, and OMIM, with additional validation using secondary methods when requiredhe resulting dataset contributes to elucidating the genetic basis of MCDs and enhances understanding of the molecular mechanisms underlying neurological conditions such as epilepsy, developmental delay, and intellectual disabilityuch as epilepsy, developmental delay, and intellectual disability.
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipIdFAPESP: 2013/07559-3
dc.description.sponsorshipIdCAPES: 001
dc.description.sponsorshipIdCNPq: 311923/2019-4
dc.formattext/tab-separated-values
dc.identifier.urihttps://doi.org/10.25824/redu/D4WYLS
dc.identifier.urihttps://redu.unicamp.br/dataset.xhtml?amp;persistentId=doi:10.25824/redu/D4WYLS
dc.identifier.urihttps://agenda.sc.usp.br/handle/123456789/37458
dc.publisherOliveira, Laiz Luiza Miranda de
dc.subjectMedicine, Health and Life Sciences
dc.titleGenetic study of cortical malformations - SNP-array

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