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matentzn committed Mar 30, 2024
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29 changes: 21 additions & 8 deletions docs/reference/phenotype-data.md
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### Different shapes of phenotype data

Phenotype data comes in many different shapes and forms. In the following, we will describe some of the most common features of such data:

- [Pre-coordinated](#precoordinated)
- [Post-coordinated](#postcoordinated)
- [Standardised/non-standardized](#standardized)
- [Quantitative/qualitative](#qual)

<a id="precoordinated"></a>

#### Pre-coordinated

Pre-coordinated phenotype data is popular in the clinical domain, where a lot of observations are taken by a clinician and recorded as "phenotypic abnormalities" with the goal of eventual diagnosis.

[Phenopackets](http://phenopackets.org/) such as the one below are an emerging standard to capture and sharing disease and phenotype information. Phenotypic features in particular are captured as so called "pre-coordinated phenotype terms" such as "Attenuation of retinal blood vessels" (HP:0007843). "Pre-coordinated" in this context means that the various [aspects of the phenotype term](../reference/core-concepts.md), such as the _bearer_ ("retinal blood vessels") and the _characteristic_ ("Attenuation", or "thinning/narrowing"), and the _modifier_ (in the case of HPO terms, simply _abnormal_), are combined ("coordinated") into a single term.
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}
```

#### Pre-coordinated

- HPO during clinical phenotyping
- Mouse phenotypes
Apart from clinical diagnostics, pre-coordinated phenotype terms are used in many other contexts such as model organism research (e.g. [IMPC](https://www.mousephenotype.org/)) or the curation of [Genome Wide Association Studies](https://www.ebi.ac.uk/gwas/)).

<a id="postcoordinated"></a>

#### Post-coordinated

- Trait + modifier
- Bearer only
- Characteristics + modifier + bearer
- Complex bearers
Post-coordinated phenotype curation simply means that the different constituents of phenotype (characteristic, bearer, modifier etc) are captured individually.
This has certain advantages.
For example, the phenotype space is _enormous_, as you can measure variations in many observable charactertics from chemical entities present in the blood, the microbiome to a host of morphological and developmental abnormalities. Instead of having individual (controlled vocabulary) terms for `increased level of X`, `decreased level X`, `abnormal level of X`, `increased level of X in blood` for thousands of chemical compounds synthesized by the human body, you just have "increased level", "blood" and all the chemical compounds.

There are at least three flavours of post-coordinated phenotype curation prevalent in the biomedical domain, four if you count quantified phenotypes:

- [Trait + modifier](#traitmodifier)
- [Bearer only](#beareronly)
- [Characteristics + modifier + bearer](#charmodbear)

Note that bearers can be arbitrarily complex.

<a id="standardized"></a>

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55 changes: 54 additions & 1 deletion mkdocs.yaml
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nav:
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- Cite: cite.md
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