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## Knowledge Graph based Phenotyping on Heterogenous/Distributed Data Sources | ||
## Knowledge Graph based Phenotyping on Heterogenous Data Sources | ||
- towards interpretable, reusable, reproducible phenotype computation in clinical data science. | ||
- a project funded by Health Data Research UK | ||
- a project funded by [Health Data Research UK: Graph-Based Data Federation for Healthcare Data Science](https://www.hdruk.ac.uk/projects/graph-based-data-federation-for-healthcare-data-science/) | ||
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### Why & What | ||
Extracting patient phenotypes from routinely collected health data (such as Electronic Health Records) requires translating clinically-sound phenotype definitions into queries/computations executable on the underlying data sources by clinical researchers. This requires significant knowledge and skills to deal with heterogeneous and often *imperfect* data. Translations are time-consuming, error-prone and, most importantly, hard to share and reproduce across different settings. This project implements a **knowledge driven phenotyping framework** that | ||
1. decouples the specification of phenotype semantics from underlying data sources; | ||
2. can automatically populate and conduct phenotype computations on heterogeneous data spaces. | ||
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### Architecture & Deployment | ||
This framework has been deployed on five Scottish health datasets. | ||
![alt text](https://raw.githubusercontent.com/Honghan/KGPhenotyping/master/assets/kg-phenotyping-arch.png "Architecture of Knowledge Driven Phenotyping") |
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# Evaluation Queries for MIE 2020 Submission | ||
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## Q1: patients prescribed Fluoxetine (SNOMED CT code: 321949006) | ||
SPARQL: | ||
```SPARQL | ||
PREFIX : <http://www.hdruk.ac.uk/sprint/graph/> | ||
PREFIX test: <http://www.hdruk.ac.uk/sprint/graph/ontology/test/> | ||
PREFIX onto: <http://www.hdruk.ac.uk/sprint/graph/ontology/> | ||
PREFIX icd: <http://www.hdruk.ac.uk/sprint/graph/ontology/ICD/> | ||
PREFIX patient: <http://www.hdruk.ac.uk/sprint/graph/patient/> | ||
PREFIX RCTV2: <http://purl.bioontology.org/ontology/RCTV2/> | ||
PREFIX bnf: <http://www.hdruk.ac.uk/sprint/graph/ontology/bnf/> | ||
PREFIX snomed: <http://www.hdruk.ac.uk/sprint/graph/ontology/snomed/> | ||
SELECT DISTINCT * | ||
WHERE { | ||
?x onto:hasPrescription ?p . | ||
?p a snomed:321949006 . | ||
} | ||
``` | ||
SQL: | ||
```SQL | ||
select CHI from graph.Prescription where BnfCode='0403030E0AAAAAA' | ||
``` | ||
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## Q2: patients diagnosed as Type II Diabetes (ICD10 E11 and its sub-codes) | ||
SPARQL: | ||
```SPARQL | ||
PREFIX : <http://www.hdruk.ac.uk/sprint/graph/> | ||
PREFIX test: <http://www.hdruk.ac.uk/sprint/graph/ontology/test/> | ||
PREFIX onto: <http://www.hdruk.ac.uk/sprint/graph/ontology/> | ||
PREFIX icd: <http://www.hdruk.ac.uk/sprint/graph/ontology/ICD/> | ||
PREFIX patient: <http://www.hdruk.ac.uk/sprint/graph/patient/> | ||
PREFIX RCTV2: <http://purl.bioontology.org/ontology/RCTV2/> | ||
PREFIX bnf: <http://www.hdruk.ac.uk/sprint/graph/ontology/bnf/> | ||
PREFIX snomed: <http://www.hdruk.ac.uk/sprint/graph/ontology/snomed/> | ||
SELECT DISTINCT * | ||
WHERE { | ||
?x a icd:E11 . | ||
} | ||
``` | ||
SQL: | ||
```SQL | ||
select CHI from graph.HospitalAdmissions where maincondition like 'E11%' or maincondition in | ||
('-25000', '-25002', '-25010', '-25012', '-25020', '-25022', '-25030', '-25032', '-25040', '-25042', '-25050', '-25052', '-25060', '-25062', '-25070', '-25072', '-25080', '-25082', '-25090', '-25092') | ||
``` | ||
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## Q3: patients have potential Diabetes coding errors | ||
SPARQL: | ||
```SPARQL | ||
PREFIX : <http://www.hdruk.ac.uk/sprint/graph/> | ||
PREFIX test: <http://www.hdruk.ac.uk/sprint/graph/ontology/test/> | ||
PREFIX onto: <http://www.hdruk.ac.uk/sprint/graph/ontology/> | ||
PREFIX icd: <http://www.hdruk.ac.uk/sprint/graph/ontology/ICD/> | ||
PREFIX patient: <http://www.hdruk.ac.uk/sprint/graph/patient/> | ||
PREFIX RCTV2: <http://purl.bioontology.org/ontology/RCTV2/> | ||
PREFIX bnf: <http://www.hdruk.ac.uk/sprint/graph/ontology/bnf/> | ||
PREFIX snomed: <http://www.hdruk.ac.uk/sprint/graph/ontology/snomed/> | ||
SELECT DISTINCT * | ||
WHERE { | ||
?x a onto:DiabetesConflictPatient . | ||
} | ||
``` | ||
SQL: | ||
```SQL | ||
select h1.CHI from graph.HospitalAdmissions h1, graph.HospitalAdmissions h2 where (h1.maincondition like 'E11%' or h1.maincondition in | ||
('-25000', '-25002', '-25010', '-25012', '-25020', '-25022', '-25030', '-25032', '-25040', '-25042', '-25050', '-25052', '-25060', '-25062', '-25070', '-25072', '-25080', '-25082', '-25090', '-25092')) | ||
and | ||
(h2.maincondition like 'E10%' or h1.maincondition in | ||
('-25001', '-25003', '-25011', '-25013', '-25021', '-25023', '-25031', '-25033', '-25041', '-25043', '-25051', '-25053', '-25061', '-25063', '-25071', '-25073', '-25081', '-25083', '-25091', '-25093')) | ||
and h1.CHI = h2.CHI | ||
``` |
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