Figure 1 | Genetics in Medicine

Figure 1

From: A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

Figure 1

Semiquantitative metric scores. (a) Summary of overlap between the gene lists analyzed. The American College of Medical Genetics and Genomics (ACMG) genes included 26 gene–disease pairs (25 not including NTRK) that were not among the bin 1 genes. Conversely, 130 bin 1 genes were not among the ACMG genes. Of the 111 random genes with a defined disease association, 4 overlapped with the bin 1 genes (ANK2, BRIP1, COL1A2, PROC), 1 overlapped with the ACMG genes (NTRK1), and 1 gene overlapped both lists (PTEN). The Locus-Variant Binning Committee also evaluated 80 other gene–disease pairs, including alternative phenotypes for some genes, or different genes with similar disease phenotypes. One of these genes was on the ACMG list (NF2) and two were on the random list (CASQ2 and MAX). (b) Distribution of semiquantitative metric scores. Box-whisker plots showing the median, 25th–75th percentiles (box), and 5th–95th percentiles (whiskers) of the scores for the bin 1 gene list, ACMG gene list, random gene list, and other gene list. Asterisks indicate statistically significant differences (P < 0.0001, two-tailed Mann-Whitney test).

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