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. 2022 Apr 5;14:38. doi: 10.1186/s13073-022-01019-9

Fig. 2.

Fig. 2

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