Clinical and Analytical Validation of a Combined RNA and DNA Exome Assay Across a Large Tumor Cohort: Dataset

Combining RNA sequencing (RNA-seq) with whole exome sequencing (WES) from a single tumor sample can substantially improve the detection of clinically relevant alterations in cancer. We developed and validated an assay that integrates RNA-seq and WES for evaluating gene expression, detect gene fusions, characterize tumor microenvironment signatures, and identify somatic single nucleotide variants (SNVs), insertions/deletions (INDELs), and copy number variations (CNVs). Applied to 2,230 clinical tumor samples, the integrated assay enables direct correlation of somatic alterations with gene expression, recovery of variants missed by DNA-only testing, and improves detection of gene fusions. Here, we present a dataset harbouring expression values in transcripts per million (TPM), gene fusion events with fusion fragments per million (FFPM) across transcriptome, copy number variatons across whole exome and SNV/INDEL with variant allele frequency assessed (VAF).