The health of an individual organism results from a complex interplay between its genes and environment. Although great strides have been made in standardizing the representation of genetic information for exchange, there are no comparable standards to represent phenotypes (e.g. patient symptoms and disease features) and environmental factors (Figure 1). Phenotypic abnormalities of individual organisms are currently described in diverse places and in diverse formats: publications, databases, health records, registries, clinical trials, and even social media. However, the lack of standardization, accessibility, and computability among these contexts makes it extremely difficult to effectively extract and utilize these data, hindering the understanding of genetic and environmental contributions to disease.
Documentation
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TODO
See the issue tracker for a complete list. Some of the main issues of relevance: