SPART and Troyer syndrome: First, we aimed to establish the sensitivity of our RNA-Seq pipeline and comparing it to previously published pipelines by testing five cases with established transcript-deleterious variants and found that 100% were correctly called, i.e., the mutated gene was chosen among the top or only candidate gene for each of the five cases (Additional file 6: Figure S2 and Additional file 7: Table S5) as follows:10DG0840 (a case of Troyer syndrome and a class (d) variant in SPG20, see Additional file 2: Table S1): The RNA-Seq-based prediction generated 167 candidates.