Our new preprint exploring blood-based RNA-Seq for rare disorder diagnostics in the 100,000 Genomes Project is out! doi.org/10.64898/202... Here are some key findings…
doi.org
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library
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 indiv...
