Fig. 2
From: Clinical implementation of RNA sequencing for Mendelian disease diagnostics
RNA-seq-based diagnostic flow chart. Flow diagram showing the diagnostic decision guideline after detecting a gene with an aberrant event in RNA-seq data. Identification of an aberrant event can lead to genetic diagnosis (diagnostic setting), lead to the discovery of a candidate new disease gene (research setting), or alternatively be of unlikely diagnostic significance, after which the next aberrant event is analyzed following the same path