Evidence map›Paper›PMID 27903883›Full record

ArticleNucleic acids research2016

Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.

Hongseok Shim, Ji Hyun Kim, Chan Yeong Kim, Sohyun Hwang, Hyojin Kim, Sunmo Yang, Ji Eun Lee, Insuk Lee

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.1field-weighted citation impact, top 15% 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

14 citing papers in PubMed, 26 citations in OpenAlex.

  1. Tekt3 Safeguards Proper Functions and Morphology of Neuromast Hair Bundles.International journal of molecular sciences · 2025
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  13. Genetic deletion of gpr27 alters acylcarnitine metabolism, insulin sensitivity, and glucose homeostasis in zebrafish.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020
    Article
  14. 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

8 authors at 3 institutions in 1 country.

Hongseok ShimDepartment of Biotechnology, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Korea.
Ji Hyun KimDepartment of Health Sciences & Technology, SAIHST, Sungkyunkwan University, Seoul 06351, Korea.
Chan Yeong KimDepartment of Biotechnology, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Korea.
Sohyun HwangDepartment of Biotechnology, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Korea.
Hyojin KimDepartment of Biotechnology, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Korea.
Sunmo YangDepartment of Biotechnology, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Korea.
Ji Eun LeeDepartment of Health Sciences & Technology, SAIHST, Sungkyunkwan University, Seoul 06351, Korea jieun.lee@skku.edu.
Insuk LeeDepartment of Biotechnology, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Korea insuklee@yonsei.ac.kr.
Yonsei University · KRSamsung Medical Center · KRSungkyunkwan University · KR

Funding

Medical Research Council G9815508
6 · The paper itself

Abstract

Whole exome sequencing (WES) accelerates disease gene discovery using rare genetic variants, but further statistical and functional evidence is required to avoid false-discovery. To complement variant-driven disease gene discovery, here we present function-driven disease gene discovery in zebrafish (Danio rerio), a promising human disease model owing to its high anatomical and genomic similarity to humans. To facilitate zebrafish-based function-driven disease gene discovery, we developed a genome-scale co-functional network of zebrafish genes, DanioNet (www.inetbio.org/danionet), which was constructed by Bayesian integration of genomics big data. Rigorous statistical assessment confirmed the high prediction capacity of DanioNet for a wide variety of human diseases. To demonstrate the feasibility of the function-driven disease gene discovery using DanioNet, we predicted genes for ciliopathies and performed experimental validation for eight candidate genes. We also validated the existence of heterozygous rare variants in the candidate genes of individuals with ciliopathies yet not in controls derived from the UK10K consortium, suggesting that these variants are potentially involved in enhancing the risk of ciliopathies. These results showed that an integrated genomics big data for a model animal of diseases can expand our opportunity for harnessing WES data in disease gene discovery.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenomicsAlgorithmsAnimalsBayes TheoremComputational BiologyDatasets as TopicExomeGenetic VariationHigh-Throughput Nucleotide SequencingHumansMolecular Sequence AnnotationZebrafish

Identifiers

PMID27903883
PMCPMC5175370
OpenAlexW2529257650

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.