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Fig. 3 | BMC Medical Genomics

Fig. 3

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

Fig. 3

Schematic representation of the workflow leading to the identification of previously unidentified causative variants. Sankey diagram summarizing the distribution of the cohort and the results of the analytical workflow. Nodes represent: (i) organ of interest (kidney or liver), (ii) main disease macro-categories, (iii) variant(s) identification by NGS, (iv) reasons why variant was identified by re-analysis (metrics adopted during the re-analysis, gene lists update, variants re-classification), (v) variant classification post-NGS and (vi) variant classification post-Sanger and family segregation studies. Arrows thickness is proportional to the number of patients. The Sankey Matic tool was used to obtain the Sankey diagram. CAKUT: congenital abnormalities of kidney and urinary tract; CKD: chronic kidney disease; HUS: hemolytic uremic syndrome; NS: not segregated

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BMC Medical Genomics

ISSN: 1755-8794

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