Evidence map›Paper›PMID 36571484›Full record

ArticleBioinformatics (Oxford, England)2023

Discovering comorbid diseases using an inter-disease interactivity network based on biobank-scale PheWAS data.

Yonghyun Nam, Sang-Hyuk Jung, Jae-Seung Yun, Vivek Sriram, Pankhuri Singhal, Marta Byrska-Bishop, Anurag Verma, Hyunjung Shin, Woong-Yang Park, Hong-Hee Won and 1 more

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Yonghyun NamDepartment of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-2963-2151
Sang-Hyuk JungDepartment of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-4116-3327
Jae-Seung YunDepartment of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Vivek SriramDepartment of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Pankhuri SinghalDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Marta Byrska-BishopNew York Genome Center, New York, NY 10013, USA.ORCID 0000-0002-9118-1032
Anurag VermaDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Hyunjung ShinDepartment of Artificial Intelligence, Ajou University, Suwon 16499, Republic of Korea.ORCID 0000-0001-8347-8277
Woong-Yang ParkSamsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
Hong-Hee WonDepartment of Digital Health, SAIHST, Sungkyunkwan University, Samsung Medical Center, Seoul 06355, Republic of Korea.
Dokyoon KimDepartment of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-4592-9564

Funding

Unravelling genetic basis of comorbidity using EHR-linked biobank dataR01GM138597 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI KIM, DOKYOON · 2020 to 2023
$2.2M
Medical Research Council MC_PC_17228National Research Foundation of Korea 2022R1A2C2009998NIGMS NIH HHS R01 GM138597
6 · The paper itself

Abstract

motivationUnderstanding comorbidity is essential for disease prevention, treatment and prognosis. In particular, insight into which pairs of diseases are likely or unlikely to co-occur may help elucidate the potential relationships between complex diseases. Here, we introduce the use of an inter-disease interactivity network to discover/prioritize comorbidities. Specifically, we determine disease associations by accounting for the direction of effects of genetic components shared between diseases, and categorize those associations as synergistic or antagonistic. We further develop a comorbidity scoring algorithm to predict whether diseases are more or less likely to co-occur in the presence of a given index disease. This algorithm can handle networks that incorporate relationships with opposite signs.

resultsWe finally investigate inter-disease associations among 427 phenotypes in UK Biobank PheWAS data and predict the priority of comorbid diseases. The predicted comorbidities were verified using the UK Biobank inpatient electronic health records. Our findings demonstrate that considering the interaction of phenotype associations might be helpful in better predicting comorbidity. AVAILABILITY AND IMPLEMENTATION: The source code and data of this study are available at https://github.com/dokyoonkimlab/DiseaseInteractiveNetwork. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

AlgorithmsBiological Specimen BanksComorbidityPhenotypeSoftware

Identifiers

PMID36571484
PMCPMC9825330

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.