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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

Fig. 2

Main features of the study cohort and variants identified by NGS data re-analysis. Patients’ distribution according to their gender, age at recruitment and organ involved (kidney or liver). Data are shown as a violin plot: purple dots represent female subjects while blue square represent male patients (a). Patients’ distribution based on the main disease macro-categories (outer circle), considering renal and hepatic pathologies (inner circle, b). Summary of curated variants in disease-causative genes identified by NGS data re-analysis. Type of variant, organ, disease macro-category and family history are reported (raw) for each patient (column; c)

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