diff --git a/docs/reference/core_concepts.md b/docs/reference/core-concepts.md similarity index 100% rename from docs/reference/core_concepts.md rename to docs/reference/core-concepts.md diff --git a/docs/reference/data-integration.md b/docs/reference/data-integration.md new file mode 100644 index 00000000..004fe98f --- /dev/null +++ b/docs/reference/data-integration.md @@ -0,0 +1,7 @@ +## Integrating phenotype data using the uPheno framework + + +### Level 1 integration: Data + + +### Level 2 integration: Knowledge \ No newline at end of file diff --git a/docs/reference/phenotype-data.md b/docs/reference/phenotype-data.md new file mode 100644 index 00000000..ad2bb041 --- /dev/null +++ b/docs/reference/phenotype-data.md @@ -0,0 +1,26 @@ +## Phenotype Data in practice + +Goals of this section: + +- Give a sense of the contexts in which phenotype data is produced (research and clinical) +- Give a sense of the shape of different styles of phenotype data + +### Some examples of phenotype data + +### Different shapes of phenotype data + +#### Pre-coordinated + +- HPO during clinical phenotyping +- Mouse phenotypes + +#### Post-coordinated + +- Trait + modifier +- Bearer only +- Characteristics + modifier + bearer +- Complex bearers + +#### Standardised/non-standardized + +#### Quantitative/qualitative \ No newline at end of file diff --git a/docs/reference/reconciliation_effort.md b/docs/reference/reconciliation-effort.md similarity index 100% rename from docs/reference/reconciliation_effort.md rename to docs/reference/reconciliation-effort.md diff --git a/docs/reference/use_cases.md b/docs/reference/use-cases.md similarity index 86% rename from docs/reference/use_cases.md rename to docs/reference/use-cases.md index 3965d73b..fb468324 100644 --- a/docs/reference/use_cases.md +++ b/docs/reference/use-cases.md @@ -5,3 +5,8 @@ - Cross-species inference in Variant and Gene Prioritisation algorithms (Exomiser). - Cross-species comparison of phenotypic profiles (Monarch Initiative Knowledge Graph) - Cross-species data in biomedical knowledge graphs (Kids First) + + +- Association prediction +- Phenotypic profile matching +- Data aggregation \ No newline at end of file diff --git a/docs/tutorials/curation.md b/docs/tutorials/curation.md index 0f1bd6b3..bb2e326a 100644 --- a/docs/tutorials/curation.md +++ b/docs/tutorials/curation.md @@ -7,22 +7,9 @@ Authors: Last update: 27.03.2024. -## Overview - -Phenotyping is, in essence, the process of recording the observable characteristics, or phenotypic profile, of an organism. -There are many use cases for doing this task: clinicians have to record a patient's phenotypic profile to facilitate more accurate diagnosis. -Researchers have to record phenotypic profiles of model organisms to characterise them to assess interventions (genetic or drug or otherwise). -Curators that seek to build a knowledge base which contains associations between phenotypes and other data types need to extract information about phenotypes from often unstructured data sources. - -All of these are different processes, but the essence is the same: a set of observable characteristics has to be recorded using terms from a controlled vocabulary. - -There are different schools about how to record phenotypes in a structured manner. -Quantified phenotypes can be recorded using either a trait in combination with a measurement datum (“head circumference”, “35 cm”) or a qualified term expressing “phenotypic change” (“increased head circumference”). -Furthermore, we can express phenotype terms as “pre-coordinated” terms, like “increased head circumference” or a “post-coordinated expression”, like “head”, “circumference”, “increased”). In the following, we will describe the different concepts and categories around phenotype data, and provide an introduction on how to best use them. - ## Pre-requisites -- [Familiarise yourself with the core concepts](../reference/core_concepts.md) +- [Familiarise yourself with the core concepts](../reference/core-concepts.md) ## Examples of phenotype data diff --git a/mkdocs.yaml b/mkdocs.yaml index 859d35da..c7c43213 100644 --- a/mkdocs.yaml +++ b/mkdocs.yaml @@ -33,13 +33,14 @@ nav: - Using uPheno in Curation: tutorials/curation.md - Using uPheno for Grouping Data: tutorials/grouping.md - Reference: - - Core concepts: reference/core_concepts.md + - Core concepts: reference/core-concepts.md + - Phenotype data: reference/phenotype-data.md - EQ modelling: - Overview of EQ modelling: reference/eq.md - Abnormal phenotypes: reference/modelling/abnormal.md - Absence modelling: reference/modelling/absence.md - - The Phenotype Reconciliation Effort: reference/reconciliation_effort.md - - Use Cases: reference/use_cases.md + - The Phenotype Reconciliation Effort: reference/reconciliation-effort.md + - Use Cases: reference/use-cases.md - Components: - Overview: reference/components.md - Drosophila Phenotype Ontology: reference/components/dpo.md