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Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library
BAM-15 · biorxiv-preprint · 2026 · Observational
RNA sequencing can identify genetic outliers in 20% of individuals with rare disorders, but the clinical relevance of these findings needs further investigation.
20% of the cohort had at least one outlier event in a disorder-relevant gene.