Data table 1 - Demographic characteristics of the cohort

Twenty singleton unrelated patients treated at four hospitals in Rio de Janeiro, Brazil, were enrolled in this study. Whole-exome sequencing was performed on the Illumina NextSeq platform, yielding an average of 20,274 variants per sample, with 116 classified as rare pathogenic or likely pathogenic. The data was made available by author Cristina dos Santos Ferreira to aid the study of monogenic IEI disorders.

Use Cases

• Identify disease-causing genetic variants based on whole-exome sequencing data.
• Study the genetic landscape of inborn errors of immunity in a Brazilian patient cohort.
• Benchmark variant classification pipelines against ACMG guidelines using the 116 rare pathogenic variants.
• Explore genotype-phenotype associations for monogenic immunological disorders.

Strengths

• Data includes whole-exome sequencing from 20 patients, with half male (mean age 9±3) and half female (mean age 12±10).
• Sequencing achieved at least 90% of bases with a minimum depth of 30 reads, indicating good coverage.
• Includes 116 variants pre-classified as rare pathogenic or likely pathogenic according to ACMG guidelines.

Limitations

• Genotype-phenotype association is impaired by a lack of detailed clinical and laboratory information.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count for the demographic table is unknown, which may limit suitability assessment.

Provenance

Source

Cristina dos Santos Ferreira via paperswithcode

Collection Method

Whole-exome sequencing performed on the Illumina NextSeq platform.

Geography

State of Rio de Janeiro, Brazil