Figure 1 | Genetics in Medicine

Figure 1

From: The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

Figure 1

Flow chart summarizing the analysis process of the National Institutes of Health Undiagnosed Diseases Program and observations for the 56 genes recommended for interrogation by the American College of Medical Genetics and Genomics Working Group on Incidental Findings in Clinical Exome and Genome Sequencing. The observations were derived from analysis of exome sequence data derived from a 159-family cohort consisting of 543 subjects with 188 affected subjects, 137 siblings, and 218 parents. *Mutations recommended for reporting as “expected pathogenic” include premature translation termination, loss of a translation termination codon, loss of a translation initiation codon, or alteration of canonical splice donor or acceptor site.

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