Skip to content

Commit

Permalink
Updated docs
Browse files Browse the repository at this point in the history
  • Loading branch information
matentzn committed Mar 30, 2024
1 parent f61cb3a commit 8fc9889
Show file tree
Hide file tree
Showing 2 changed files with 19 additions and 6 deletions.
13 changes: 13 additions & 0 deletions docs/reference/data-integration.md
Original file line number Diff line number Diff line change
@@ -1,8 +1,21 @@
## Integrating phenotype data using the uPheno framework

### Prerequisites

- [Familiarise yourself with the core concepts](../reference/core-concepts.md)
- [Familiarise the basics of phenotype data](../reference/phenotype-data.md)

### Level 1 integration: Data

Before we get started, let's remind ourselves of the basic structure of phenotype data.

![Core concepts](../images/core_concepts.png)

_Characteristics_ (A) and _bearers_ of characteristics (B) are the core constituents of traits/biological attributes (C). _Phenotypes_ are comprised of trait terms (C) combined with a modifier (D). Species-specific phenotypes (F), including _phenotypic abnormalities_ defined in the Human Phenotype Ontology (HPO) are feature of diseases (G). Measurements (H), such as assays, quantify or qualify (measure) traits (C).

Integrating all kinds of phenotype data into the "uPheno framework" is a complex process which we will break down in the following.



### Level 2 integration: Knowledge

Expand Down
12 changes: 6 additions & 6 deletions docs/reference/phenotype-data.md
Original file line number Diff line number Diff line change
Expand Up @@ -379,13 +379,13 @@ Examples:

Lets break down the second to last row:

- ZFA:0009290 (glutamatergic neuron)
- BFO:0000050 (part of): a relation used to connect the hair cell to the structure its part of)
- ZFA:0000008 (brain)
- ZFA:0009290 (glutamatergic neuron): The primary entity whose characteristic is being observed
- BFO:0000050 (part of): a relation used to connect the hair cell to the structure its part of
- ZFA:0000008 (brain): the location of the primary entity being observed
- PATO:0040043 (increased proportionality to): the modified characteristic being observed.
- abnormal (the change modifier)
- ZFA:0009276 (GABAergic neuron)
- ZFA:0000008 (brain)
- abnormal: the change modifier (note: not an ontology term)
- ZFA:0009276 (GABAergic neuron): the secondary entity being observed in relation to which the characteristic is measured
- ZFA:0000008 (brain): the location of the secondary entity
- The interested reader may look at an integrated version of that huge post-coordinated expression [here (brain increased proportionality to glutamatergic neuron GABAergic neuron brain, abnormal - ZP:0141834)](https://www.ebi.ac.uk/ols4/ontologies/zp/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FZP_0141834).

Data was obtained [from ZFIN](https://zfin.org/downloads) (Phenotype of Zebrafish Genes) on the 30.03.2023 and simplified for illustration.
Expand Down

0 comments on commit 8fc9889

Please sign in to comment.