Data table 3 - Detailed information of the rare and Pathogenic/Likely pathogenic variants

Whole-exome sequencing data from 20 unrelated Brazilian patients with suspected inborn errors of immunity (IEI) who lacked a genetic diagnosis. The dataset includes 116 variants classified as rare pathogenic or likely pathogenic according to ACMG guidelines. The data was generated by Cristina dos Santos Ferreira and colleagues from patients treated at four hospitals in Rio de Janeiro, Brazil.

Use Cases

• Identify candidate disease-causing variants based on the 116 rare pathogenic/likely pathogenic variants.
• Benchmark variant classification pipelines using data annotated according to ACMG guidelines.
• Study the genetic landscape of IEI in a Brazilian patient cohort based on whole-exome sequencing data.
• Explore genotype-phenotype associations for rare immunological disorders, acknowledging the described limitations in clinical data.

Strengths

• Includes 116 variants pre-classified as rare pathogenic or likely pathogenic using ACMG guidelines.
• Data is from 20 patient samples sequenced on the Illumina NextSeq platform with at least 90% of bases covered at 30x depth.
• Focuses on a specific clinical cohort (suspected IEI without diagnosis) from a defined geographic region (Rio de Janeiro, Brazil).

Limitations

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

Provenance

Source

Cristina dos Santos Ferreira

Collection Method

Whole-exome sequencing performed on the Illumina NextSeq platform from patient blood samples.

Geography

State of Rio de Janeiro, Brazil