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. 2022 Jan 27;7:7. doi: 10.1038/s41525-021-00278-6

Fig. 1. General framework of this study.

Fig. 1

a The different subcohorts used: the heterogeneous cohort of genetic diseases (TSO and CES), the hereditary cancer cohort (TSCa and HCS), and the cardiovascular disease cohort (NRC). b Workflow followed to compare the performance of the commercial pipeline and the FJD-pipeline. c Steps followed in the systematic reanalysis of negative (unsolved) cases.