EpiGraphDB: a database and data mining platform for health data science

Author:

Liu Yi1ORCID,Elsworth Benjamin1,Erola Pau1,Haberland Valeriia2ORCID,Hemani Gibran1,Lyon Matt13,Zheng Jie1,Lloyd Oliver1,Vabistsevits Marina1,Gaunt Tom R13

Affiliation:

1. MRC Integrative Epidemiology Unit, Bristol Medical School, University of Bristol, Bristol, UK

2. Cancer Genetics, Norwich Medical School, University of East Anglia, Norwich, UK

3. NIHR Bristol Biomedical Research Centre, University of Bristol, Bristol, UK

Abstract

Abstract Motivation The wealth of data resources on human phenotypes, risk factors, molecular traits and therapeutic interventions presents new opportunities for population health sciences. These opportunities are paralleled by a growing need for data integration, curation and mining to increase research efficiency, reduce mis-inference and ensure reproducible research. Results We developed EpiGraphDB (https://epigraphdb.org/), a graph database containing an array of different biomedical and epidemiological relationships and an analytical platform to support their use in human population health data science. In addition, we present three case studies that illustrate the value of this platform. The first uses EpiGraphDB to evaluate potential pleiotropic relationships, addressing mis-inference in systematic causal analysis. In the second case study, we illustrate how protein–protein interaction data offer opportunities to identify new drug targets. The final case study integrates causal inference using Mendelian randomization with relationships mined from the biomedical literature to ‘triangulate’ evidence from different sources. Availability and implementation The EpiGraphDB platform is openly available at https://epigraphdb.org. Code for replicating case study results is available at https://github.com/MRCIEU/epigraphdb as Jupyter notebooks using the API, and https://mrcieu.github.io/epigraphdb-r using the R package. Supplementary information Supplementary data are available at Bioinformatics online.

Funder

UK Medical Research Council

University of Bristol Vice-Chancellors Fellow

Wellcome Trust and Royal Society

Cancer Research UK programme

British Heart Foundation Accelerator

NIHR Biomedical Research Centre at University Hospitals Bristol and Weston NHS Foundation Trust and the University of Bristol

GlaxoSmithKline and Biogen

GlaxoSmithKline

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

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