Article

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

2026-02-14

Abstract excerpt

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 har...

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Literature Corpus work: 3858b223-4840-53f4-988b-2befd12ac0ad
DOI: 10.64898/2026.02.10.26345954

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