DGLinker: flexible knowledge-graph prediction of disease–gene associations

Author:

Hu Jiajing12,Lepore Rosalba3,Dobson Richard J B145,Al-Chalabi Ammar26ORCID,M. Bean Daniel14,Iacoangeli Alfredo127ORCID

Affiliation:

1. Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology & Neuroscience, King's College London, SE5 8AF, London, UK

2. Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, SE5 9RT, UK

3. BSC-CNS Barcelona Supercomputing Center, Barcelona, 08034, Spain

4. Health Data Research UK London, University College London, London, WC1E 6BT, UK

5. Institute of Health Informatics, University College London, London, NW1 2DA, UK

6. King′s College Hospital, Bessemer Road, Denmark Hill, London, SE5 9RS, UK

7. National Institute for Health Research Biomedical Research Centre and Dementia Unit at South London and Maudsley NHS Foundation Trust and King's College London, London, SE5 8AF, UK

Abstract

Abstract As a result of the advent of high-throughput technologies, there has been rapid progress in our understanding of the genetics underlying biological processes. However, despite such advances, the genetic landscape of human diseases has only marginally been disclosed. Exploiting the present availability of large amounts of biological and phenotypic data, we can use our current understanding of disease genetics to train machine learning models to predict novel genetic factors associated with the disease. To this end, we developed DGLinker, a webserver for the prediction of novel candidate genes for human diseases given a set of known disease genes. DGLinker has a user-friendly interface that allows non-expert users to exploit biomedical information from a wide range of biological and phenotypic databases, and/or to upload their own data, to generate a knowledge-graph and use machine learning to predict new disease-associated genes. The webserver includes tools to explore and interpret the results and generates publication-ready figures. DGLinker is available at https://dglinker.rosalind.kcl.ac.uk. The webserver is free and open to all users without the need for registration.

Funder

UK Research and Innovation

Medical Research Council

South London and Maudsley NHS Foundation Trust

MND Scotland

Motor Neurone Disease Association

National Institute for Health Research

China Scholarship Council

UKRI

King’s-China Scholarship Council PhD Scholarship programme

JPND

Horizon 2020

Publisher

Oxford University Press (OUP)

Subject

Genetics

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