Cytogenomic Data for 15 Individuals with Ovotesticular Difference of Sex Development

15 individuals with Ovotesticular Difference of Sex Development (OT-DSD) were investigated using multiple cytogenomic methods. The study, published on figshare, identified causative genetic alterations in 33.3% of cases. Data includes results from G-banding karyotype, Chromosomal Microarray Analysis, Optical Genome Mapping, and Whole-Genome Sequencing.

Use Cases

• Benchmarking variant detection pipelines based on the multi-method cytogenomic investigation described.
• Studying the role of SOX3 and VAMP7 gene regions in sex development based on the structural variants identified.
• Developing methods for integrating results from karyotyping, CMA, OGM, and WGS for complex genetic disorders.

Strengths

• Data is derived from a focused cohort of 15 individuals with a specific clinical diagnosis.
• Findings are based on a combination of four complementary cytogenomic methods.
• The dataset is associated with a peer-reviewed study with a clear methodology and results summary.

Limitations

• The dataset is small (2.2 MB) and the underlying data format (DOCX) suggests it may be supplementary documentation rather than primary genomic data files.
• Row and column-level details are unknown, limiting assessment of data structure and direct usability.
• Freshness should be verified; last updated 2026-04-24 05:55:31.

Provenance

Source

figshare

Collection Method

Clinical cytogenomic investigation using G-banding karyotype, Chromosomal Microarray Analysis (CMA), Optical Genome Mapping (OGM), and Whole-Genome Sequencing (WGS).

Freshness

Last updated 2026-04-24 05:55:31.