diff --git a/SPARQL/scenario_4/question1_a.rq b/SPARQL/scenario_4/question1_a.rq index b8d801f..68fdede 100644 --- a/SPARQL/scenario_4/question1_a.rq +++ b/SPARQL/scenario_4/question1_a.rq @@ -11,7 +11,7 @@ PREFIX rdfs: SELECT ?genesymbolvalue ?otherdiagnosis ?otherdiseaseid ?otherdiseaselabel WHERE { - # Find phenopacket with given ID + # Find phenopacket of AML cell line given its ID ('new-reference-files') ?phenopacket a obo:NCIT_C79269 ; sio:SIO_000228 ?role . ?id sio:SIO_000020 ?role ; diff --git a/scenario4.md b/scenario4.md index 19cc6cb..60eb95a 100644 --- a/scenario4.md +++ b/scenario4.md @@ -16,13 +16,13 @@ A researcher is interested in the diversity and prevalence of genetic aberration Have patients been observed with variants in the same gene and the same diagnosis? -To answer this question the genes are found in which at least one mutation is present given the phenopacket of the AML cell line and given a collected set of other instances of phenopackets. The next step is to acquire the diagnosed diseases with which the relevant mutations are associated. These steps are performed in the following SPARQL query: +To answer this question the genes are found in which at least one mutation is present given the phenopacket of the AML cell line identified as `new-reference-files` and given a set of other instances of phenopackets collected from a public data source. This database contains phenopackets holding information from different published cases and cohort reports. The next step is to acquire the diagnosed diseases with which the relevant mutations are associated in the collected phenopackets. These steps are performed in the following SPARQL query: ```{literalinclude} SPARQL/scenario_4/question1_a.rq :language: sparql ``` -From the collection of available phenopackets, a disease other than AML is identified that is associated with a mutation in the same gene as for the given AML cell line based on the query result shown below: +From the collection of available phenopackets, a disease other than AML associated with a mutation in the same gene as for the given AML cell line is identified based on the query result shown below: ```{glue} scenario4_diagnosis :doc: hamlet_notebook.ipynb