Knowledge driven phenotyping: Proceedings of MIE 2020

Honghan Wu*, Minhong Wang, Qianyi Zeng, Wenjun Chen, Thomas Nind, Emily Jefferson, Marion Bennie, Corri Black, Jeff Z. Pan, Cathie Sudlow, Dave Robertson

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingConference contribution book

3 Citations (Scopus)
19 Downloads (Pure)

Abstract

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 paper proposes a knowledge driven 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. We report preliminary results of deploying this framework on five Scottish health datasets.

Original languageEnglish
Title of host publicationDigital Personalized Health and Medicine
Subtitle of host publicationProceedings of MIE 2020
EditorsLouise B. Pape-Haugaard, Christian Lovis, Inge Cort Madsen, Patrick Weber, Per Hostrup Nielsen, Philip Scott
Place of PublicationAmsterdam
PublisherIOS Press
Pages1327-1328
Number of pages2
ISBN (Print)9781643680828
DOIs
Publication statusPublished - 16 Jun 2020
Event30th Medical Informatics Europe Conference, MIE 2020 - Geneva, Switzerland
Duration: 28 Apr 20201 May 2020

Publication series

NameStudies in Health Technology and Informatics
Volume270
ISSN (Print)0926-9630
ISSN (Electronic)1879-8365

Conference

Conference30th Medical Informatics Europe Conference, MIE 2020
Country/TerritorySwitzerland
CityGeneva
Period28/04/201/05/20

Funding

aWorking Group of Graph-Based Data Federation for Healthcare Data Science (Sprint Exemplar Project funded by Health Data Research, United Kingdom) This study was supported by Health Data Research UK (https://www.hdruk.ac.uk/ projects/graph-based-data-federation-for-healthcare-data-science/) and the Medical Research Council [grant number MC PC 18029] as an exemplar to create a federation of distributed health data in Scotland. The above described frame-work has been deployed on 5 synthetic data sets generated using BadMedicine [3], which represents data/schema characteristics learnt from real data. Due to space limitations, we put the full benchmark and evaluation details on a Github page: https: //github.com/Honghan/KGPhenotyping/tree/master/evaluation.

Keywords

  • data integration
  • health data
  • ontology
  • phenotype computation

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