Genetic study of cortical malformations - Exomes

This dataset comprises genomic information obtained through Whole Exome Sequencing (WES) from 96 patients diagnosed with malformations of cortical development (MCDs), previously evaluated by clinical and neuroimaging criteria. WES focuses on the protein-coding regions of the genome, where most disease-related variants are found. Samples were processed with the Agilent SureSelect V6 kit and sequenced on the Illumina NovaSeq platform using a paired-end 2 × 150 bp run. The raw data underwent quality control, discarding low-quality reads and retaining only sequences with sufficient base quality. Reads were aligned to the human reference genome (GRCh38) using BWA v0.7.17, followed by processing with Picard 2.23.8 and Samtools 1.14. Variant calling was performed with GATK 4.1.8.0, and detected variants were annotated with population allele frequency and pathogenicity predictors. Variants were then prioritized according to ACMG guidelines and filtered by patient phenotype, with additional validation when required. The resulting dataset supports the identification of pathogenic variants, genotype–phenotype correlations, and a deeper understanding of the genetic basis of MCD, conditions frequently associated with epilepsy, developmental delay, and intellectual disability. The raw FASTQ files are not currently available as they have not yet been published. Upon publication of the article, links to the raw FASTQ files will be provided, and an updated table including the corresponding accession numbers and repositories will be made available.