Article

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

2026-03-23

Abstract excerpt

RNA sequencing (RNA-Seq) is increasingly used alongside exome and genome sequencing to identify causal variants underlying rare Mendelian disorders. We present short-read RNA-Seq data from 5,412 individuals with a diverse range of rare disorders recruited to Genomics England’s 100,000 Genomes Project. We show that the proportion of genes from gene panels applied to different disorders which are well captured (tran...

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Literature Corpus work: 7fbde6d3-b44a-5d1d-b4d2-027001701d7a
DOI: 10.64898/2026.03.19.26348811

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