Evidence map›Paper›PMID 26330267›Full record

ArticleBMC genomics2015

A computational framework for the prioritization of disease-gene candidates.

Fiona Browne, Haiying Wang, Huiru Zheng

Abstract read
In one paragraph

Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing 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

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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

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

  1. Pooled it
  2. Article
  3. Article
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  15. Mining the literature for genes associated with placenta-mediated maternal diseases.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2017
    Article
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

3 authors.

Fiona Browne
Haiying Wang
Huiru Zheng

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe identification of genes and uncovering the role they play in diseases is an important and complex challenge. Genome-wide linkage and association studies have made advancements in identifying genetic variants that underpin human disease. An important challenge now is to identify meaningful disease-associated genes from a long list of candidate genes implicated by these analyses. The application of gene prioritization can enhance our understanding of disease mechanisms and aid in the discovery of drug targets. The integration of protein-protein interaction networks along with disease datasets and contextual information is an important tool in unraveling the molecular basis of diseases.

resultsIn this paper we propose a computational pipeline for the prioritization of disease-gene candidates. Diverse heterogeneous data including: gene-expression, protein-protein interaction network, ontology-based similarity and topological measures and tissue-specific are integrated. The pipeline was applied to prioritize Alzheimer's Disease (AD) genes, whereby a list of 32 prioritized genes was generated. This approach correctly identified key AD susceptible genes: PSEN1 and TRAF1. Biological process enrichment analysis revealed the prioritized genes are modulated in AD pathogenesis including: regulation of neurogenesis and generation of neurons. Relatively high predictive performance (AUC: 0.70) was observed when classifying AD and normal gene expression profiles from individuals using leave-one-out cross validation.

conclusionsThis work provides a foundation for future investigation of diverse heterogeneous data integration for disease-gene prioritization.

Indexed as

Computational BiologyProtein Interaction MapsTranscriptomeAlzheimer DiseaseGene OntologyGenetic Association StudiesHumansOrgan Specificity

Identifiers

PMID26330267
PMCPMC4547404

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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.