Evidence map›Paper›PMID 31276496›Full record

ArticlePLoS computational biology2019

Disease gene prediction for molecularly uncharacterized diseases.

Juan J Cáceres, Alberto Paccanaro

Open access · goldAbstract read
In one paragraph

Article in PLoS computational biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.4field-weighted citation impact, top 10% of its field
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

13 citing papers in PubMed, 37 citations in OpenAlex.

  1. Article
  2. Host centric drug repurposing for viral diseases.PLoS computational biology · 2025
    Article
  3. Article
  4. LanDis: the disease landscape explorer.European journal of human genetics : EJHG · 2024
    Article
  5. Review
  6. Article
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  8. Article
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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

2 authors at 1 institution in 1 country.

Juan J CáceresCentre for Systems and Synthetic Biology & Department of Computer Science, Royal Holloway, University of London, Egham, Surrey, United Kingdom.ORCID 0000-0002-4370-2622
Alberto PaccanaroCentre for Systems and Synthetic Biology & Department of Computer Science, Royal Holloway, University of London, Egham, Surrey, United Kingdom.ORCID 0000-0001-8059-1346
Royal Holloway University of London · GB

Funding

Biotechnology and Biological Sciences Research Council BB/F00964X/1Biotechnology and Biological Sciences Research Council BB/K004131/1Biotechnology and Biological Sciences Research Council BB/M025047/1
6 · The paper itself

Abstract

Network medicine approaches have been largely successful at increasing our knowledge of molecularly characterized diseases. Given a set of disease genes associated with a disease, neighbourhood-based methods and random walkers exploit the interactome allowing the prediction of further genes for that disease. In general, however, diseases with no known molecular basis constitute a challenge. Here we present a novel network approach to prioritize gene-disease associations that is able to also predict genes for diseases with no known molecular basis. Our method, which we have called Cardigan (ChARting DIsease Gene AssociatioNs), uses semi-supervised learning and exploits a measure of similarity between disease phenotypes. We evaluated its performance at predicting genes for both molecularly characterized and uncharacterized diseases in OMIM, using both weighted and binary interactomes, and compared it with state-of-the-art methods. Our tests, which use datasets collected at different points in time to replicate the dynamics of the disease gene discovery process, prove that Cardigan is able to accurately predict disease genes for molecularly uncharacterized diseases. Additionally, standard leave-one-out cross validation tests show how our approach outperforms state-of-the-art methods at predicting genes for molecularly characterized diseases by 14%-65%. Cardigan can also be used for disease module prediction, where it outperforms state-of-the-art methods by 87%-299%.

Indexed as

Computational BiologyDatabases, GeneticGenetic Diseases, InbornHumansPhenotype

Identifiers

PMID31276496
PMCPMC6636748
OpenAlexW2955056739

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.