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# Traits and phenotypes - the Conceptual model | ||
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# Using OBA and uPheno in data curation | ||
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Authors: | ||
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- [James McLaughlin]() | ||
- [Nicolas Matentzoglu](https://orcid.org/0000-0002-7356-1779) | ||
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Last update: 27.03.2024. | ||
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## Overview | ||
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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. | ||
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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. | ||
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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. | ||
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## Core concepts | ||
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<!-- Add figure with all core components from OBA poster --> | ||
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- Phenotypic characteristic | ||
- Bearer | ||
- Biological attribute | ||
- Phenotypic abnormality | ||
- Disease | ||
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### (Phenotypic) Characteristic | ||
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"Characteristics" or "qualities" refer to an inherent or distinguishing characteristic or attribute of something or someone. | ||
It represents a feature that defines the nature of an object, organism, or entity and can be used to describe, compare, and categorize different things. | ||
Characteristics can be either qualitative (such as color, texture, or taste) or quantitative (such as height, weight, or age). | ||
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Some of the most widely use qualities can be seen in the following tables | ||
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| quality | description | example | | ||
| ------- | ----------- | ------- | | ||
| Length ([PATO:0000051](http://purl.obolibrary.org/obo/PATO_0000051)) | A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. | | | ||
| Mass ([PATO:0000128](http://purl.obolibrary.org/obo/PATO_0000128)) | A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. | | | ||
| Level ([PATO:0000128](http://purl.obolibrary.org/obo/PATO_0000128)) | A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. | | | ||
| Morphology ([PATO:0000051](http://purl.obolibrary.org/obo/PATO_0000051)) | A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. | | | ||
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### Biological Trait | ||
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### Phenotypic abnormality | ||
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- Nature of "comparators" in the notion of a phenotypic abnormality. | ||
- In database curation you are effectively de-contextualising the phenotype term, which means you loose the original comparator. | ||
- normal changed wildtype comparator | ||
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### Disease | ||
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## Important relationships wrt to phenotype data | ||
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- inheres in / characteristic of | ||
- bearer of | ||
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## Examples of phenotype data | ||
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1. gene to phenotype associations | ||
1. gene to disease assocations | ||
1. phenotype - phenotype semantic similarity | ||
1. Quantified trait data (QTL etc) | ||
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## Types of phenotype data | ||
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- Precoordinated phenotype | ||
- Post-coordinated phenotype | ||
- Attribute-measurement | ||
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