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Symptom and Sign Assisted Genome Analysis

Symptom and Sign Assisted Genome Analysis involves matching of clinical features to diseases. This form of analysis allows physicians to delimit genome analyses to genes of causal relevance to individual clinical presentations in accord with published guidelines for genetic testing in children and with NGS.

Conducting the analysis

Matching of clinical features to diseases to disease genes is performed by entry of terms describing the patients presentations into a novel clinicopathologic correlation tool. This tool currently has a menu of 227 clinical terms, arranged in 9 categories. SNOMED-CT terms map to 591 well-established recessive diseases with known causal genes. Phenotype-to-disease-to-gene mapping was informed by Gene Reviews, Online Mendelian Inheritance in Man (OMIM) Clinical Synopsis, Mitocarta and expert physician reviewers. Upon entry of the features of an individual patient, SSAGA nominates the corresponding superset of relevant diseases and genes, rank ordered by number of matching terms.

Improving diagnostic sensitivity

The diagnostic sensitivity of the analysis tool improves with use by manual updating of mappings in cases where nominations failed to include the causal gene. The tool is extensible to additional diseases, genes, and clinical terms. Interpretation of results is guided by the ranking of variant reports yielded by RUNES on SSAGA-prioritized candidate genes.