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annotation_pipeline/README.md

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@@ -19,6 +19,22 @@ The `annotationChooser` function is processes statistical analysis results calle
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The annotation pipeline requires a reference table that summarises the available MP terms for a given IMPC parameter. This reference can be retrieved from [IMPReSS](https://www.mousephenotype.org/impress/index).
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The ETL pipeline handles this by generating the `mp_chooser.json` file.
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- We will denote p-value calls made from:
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- ♂ Male only data
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- ♀ Female only data
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- ⚤ All data combined
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- We will denote `mp_chooser.json` terms as they are:
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- MALE
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- FEMALE
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- UNSPECIFIED
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In the `mp_chooser.json` file each MP term can have different levels:
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- Ontology term levels: ABNORMAL, INCREASE, DECREASE.
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- Sex levels: FEMALE, MALE and UNSPECIFIED.
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MP term assignment logic can be seen below:
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```mermaid
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%%{
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init: {
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}
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}%%
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graph TD;
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A[Repeat separately for Overall, Females and Males] --> B{Is genotype effect significant?}
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B -- No --> C[Do not assign MP term]
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B -- Yes --> D{Is the direction of genotype effect specified?}
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D -- No --> E[Select Abnormal term]
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D -- Yes --> F{Is there any conflict of direction? <br> example: Low.Decrease/High.Increase <br> or Male.Decrease/Female.Increase}
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F -- No --> G[Choose an MP term corresponding to the direction of change]
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F -- Yes --> H[Select Abnormal term]
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```
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Start{Which method is used for the analysis?} --> |MM| MM[Prioritise INCREASE/DECREASE MP term] --> A
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Start --> |FE or RR| FE_RR[Only use ABNORMAL MP term] --> A
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A{"Is FEMALE/MALE specific MP term available in the mp_chooser file?"}
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A --> |Yes| A2[Use sex specific MP term] --> B{Is ♀/♂ call observed?}
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A --> |No| A3[Use UNSPECIFIED term] --> B
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B --> |Yes| B1[Drop UNSPECIFIED and report sex-specific MP term]
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B --> |No| B2[Keep and report UNSPECIFIED MP term]

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