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add explanation to CSL report
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bschilder committed Mar 19, 2024
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1 change: 1 addition & 0 deletions README.Rmd
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Expand Up @@ -31,4 +31,5 @@ Thesis project by Momoko Otani, supervised by Nathan Skene and Brian Schilder.
## [Differential outcomes](https://neurogenomics.github.io/RareDiseasePrioritisation/reports/differential_outcomes)
## [GPT annotations](https://neurogenomics.github.io/RareDiseasePrioritisation/reports/gpt_annotations)
## [Orphanet prevalence data](https://neurogenomics.github.io/RareDiseasePrioritisation/reports/orphanet_prevalence)
## [CSL Areas of Interest](https://neurogenomics.github.io/RareDiseasePrioritisation/reports/CSL)

9 changes: 8 additions & 1 deletion reports/CSL.Rmd
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Expand Up @@ -25,6 +25,8 @@ knitr::opts_chunk$set(warning = FALSE,

### Import CSL areas of interest

CSL areas of interest mapped onto Human Phenotype Ontology (HPO) and/or other disease ontologies (OMIM/ORPH).

```{r}
csl <- data.table::fread(here::here("data/CSL_areas_of_interest.tsv"))
csl <- csl[Group=="Early Stage Partnering"]
Expand Down Expand Up @@ -91,6 +93,11 @@ targets <- all_targets[
| disease_id %in% disease_ids
)
]
MSTExplorer::create_dt(head(targets,100))
```

Summarise results:
```{r, message=TRUE}
message(paste0(
length(intersect(all_targets$hpo_id,hpo_ids_extended)),"/",
length(unique(hpo_ids_extended)),
Expand All @@ -99,9 +106,9 @@ message(paste0(
" CSL phenotypes (across ",length(unique(all_targets$disease_id))," diseases)",
" covered in our prioritised targets."
))
MSTExplorer::create_dt(head(targets,100))
```


### Get the top candidates per area of interest

#### Per HPO ancestor
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21 changes: 12 additions & 9 deletions reports/CSL.html

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