RNA Sequencing as a Diagnostic Tool
Shamika Ketkar, Lindsay C. Burrage, Brendan Lee
Abstract
This JAMA Insights discusses RNA sequencing, which allows detection of qualitative and quantitative changes in RNA expression across the genome in clinical samples, and how it may improve molecular diagnostic rates achieved by diagnostic exome sequencing and whole-genome sequencing alone.
Topics & Concepts
Exome sequencingMedicineDNA sequencingRNAComputational biologyExomeGenomeCancer genome sequencingWhole genome sequencingDeep sequencingGeneticsDNAGeneMutationBiologyRNA modifications and cancerCancer Genomics and DiagnosticsGenomics and Rare Diseases