Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

2026-02-14 genetic and genomic medicine Title + abstract only

Show abstract

RNA sequencing (RNA-seq) provides a powerful complement to DNA sequencing for uncovering pathogenic defects affecting gene expression and splicing in individuals with genetically undiagnosed rare disorders. However, as large rare disease consortia adopt RNA-seq, challenges arise due to cohort heterogeneity, variability in tissues and sample sizes, and differences in interpretation practices. Here, we present a harmonized analytical and interpretation framework developed by the pan-European Solv...

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium

Predicted journal destinations