Data · dataset · 2026
Genetic study of cortical malformations - Exomes
Listed in REDU - Unicamp Institutional Research Data Repository
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.
Description
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.
Read the rest (2 more)
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.
Links
Where it is published
- Dataverse dataset page redu.unicamp.br/dataset.xhtml?persistentId=doi%3A10.25824%2Fredu%2F4MO3BI ↗
landing page · from redu unicamp br
- DOI doi.org/10.25824/redu/4mo3bi ↗
DOI / persistent id · from redu unicamp br
Catalogue records · 1
- Dataverse API redu.unicamp.br/api/datasets/:persistentId/?persistentId=doi%3A10.25824%2Fredu… ↗
metadata API · from redu unicamp br
Topics
- Stated by source
- Medicine, Health and Life Sciences
- From keywords
- Genetics · Life Sciences · Medicine & Health
- Inferred from text
- Sequencing 75% · Tabular 65%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| REDU - Unicamp Institutional Research Data Repository | doi:10.25824/redu/4MO3BI | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| concepts[field].anzsrc:group:3105 | mapping · redu unicamp br | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].dataverse_subject:medicine-health-and-life-sciences | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /subjects |
| concepts[field].local:field:life-sciences | mapping · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /subjects |
| concepts[field].local:field:medicine-health | mapping · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /subjects |
| concepts[modality].local:modality:sequencing | enrichment · redu unicamp br | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:tabular | enrichment · redu unicamp br | keyword-concept-rules@1.0.0 | title+description (65%) |
| created_date | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | |
| description | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /description |
| publication_date | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | |
| title | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | /name |
| updated_date | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 | |
| version_label | source · redu unicamp br | connector:redu_unicamp_br@1.0.0 |