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Table 1 The 81 cases with 216 individuals used in the study

From: Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Type of case Cases Known gene Discovery gene Individuals per case Rank of correct (known gene cases) Number of zygosities (known gene cases)
     Average Range Average Range Average Range
SNV in nuclear family 18 15 3 2.39 2–4 1.13 1–3 12.60 1–21
SNV variant shared 19 19 0 3.11 2–6 1.16 1–4 2.63 1–10
SNV gene shared 20 15 5 3.60 2–6 1.00 1 1.27 1–2
CNV in nuclear families 24 21 3 1.75 1–3 1.14 1–3 87.00 1–790
TOTAL 81 70 11 2.67 1–6 1.11 1–4 29.79 1–790
  1. There were 57 cases with SNVs only, divided into 3 groups depending on familial relationships: nuclear family (all were beyond the trio by virtue of having more than one sibling), variant shared (beyond nuclear families but with the same pathogenic variant), and gene shared (unrelated, with different variants in the same gene). Cases with CNVs were all within nuclear families, but 7 were beyond the trio by virtue of including a sibling. The number of zygosities (i.e., monoallelic versus biallelic) in the genome-phenome clinical correlation (e.g., Fig. 1) and rank of the gene zygosity that was correct (1 = top) are shown only for “known gene cases”; i.e., cases with a known gene-phenotype association in which a genome-phenome correlation can be done