RNA-Guided Genetic Analysis of 22 Patients with Unsolved Inborn Errors of Immunity

A 27.7 KB document authored by Willem T. K. Maassen and last updated on 2026-05-27. It describes a multidisciplinary study applying RNA-guided analysis to a cohort of 22 patients with suspected inborn errors of immunity where standard genetic testing was inconclusive.

Use Cases

• Benchmarking RNA-sequencing analysis pipelines for detecting aberrant splicing in genetic diagnostics based on the described methodology.
• Training machine learning models to identify expression or splicing outliers from RNA-seq data as described in the study.
• Developing variant interpretation frameworks that integrate RNA-seq evidence with genomic data, as demonstrated in the research.
• Studying the diagnostic yield of multi-omics approaches in cohorts of patients with unsolved genetic conditions.

Strengths

• The study provides a concrete diagnostic outcome, identifying causative variants in 2 out of 22 analyzed patients.
• The methodology is described in detail, including specific examples of detected splice variants (e.g., in IKBKG, CYBB, NFKB1).
• The dataset is openly licensed under CC-BY-4.0, facilitating reuse.

Limitations

• The dataset is very small at 27.7 KB, containing a research document rather than raw or processed data files.
• Row count and column-level documentation are absent, limiting direct analysis of the underlying patient data.
• The cohort size is limited to 22 patients, which may affect the generalizability of the findings.

Provenance

Source

figshare

Collection Method

A multidisciplinary team analyzed a cohort of 22 patients using a structured RNA-guided approach to reanalyze unsolved cases.

Freshness

Last updated 2026-05-27 20:01:47.