Evidence map›Paper›PMID 24694260›Full record

ArticleBMC genomics2014

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschke, Lluis Quintana-Murci, Stephanie Boisson-Dupuis, Bertrand Boisson, Laurent Abel, Shen-Ying Zhang and 1 more

Abstract read
In one paragraph

Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
–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

27 citing papers in PubMed.

  1. Trial
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  15. Predicting disease-causing variant combinations.Proceedings of the National Academy of Sciences of the United States of America · 2019
    Article
  16. Article
  17. Article
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  19. Article
  20. Exome and genome sequencing for inborn errors of immunity.The Journal of allergy and clinical immunology · 2016
    Review
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.

Yuval ItanSt, Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. yitan@rockefeller.edu.
Mark Mazel
Benjamin Mazel
Avinash Abhyankar
Patrick Nitschke
Lluis Quintana-Murci
Stephanie Boisson-Dupuis
Bertrand Boisson
Laurent Abel
Shen-Ying Zhang
Jean-Laurent Casanova

Funding

Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8M
Monogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7M
NCATS NIH HHS 8UL1 TR000043NCATS NIH HHS UL1 TR000043NIAID NIH HHS R01 AI088364
6 · The paper itself

Abstract

backgroundIdentifying the genotypes underlying human disease phenotypes is a fundamental step in human genetics and medicine. High-throughput genomic technologies provide thousands of genetic variants per individual. The causal genes of a specific phenotype are usually expected to be functionally close to each other. According to this hypothesis, candidate genes are picked from high-throughput data on the basis of their biological proximity to core genes - genes already known to be responsible for the phenotype. There is currently no effective gene-centric online interface for this purpose.

resultsWe describe here the human gene connectome server (HGCS), a powerful, easy-to-use interactive online tool enabling researchers to prioritize any list of genes according to their biological proximity to core genes associated with the phenotype of interest. We also make available an updated and extended version for all human gene-specific connectomes. The HGCS is freely available to noncommercial users from: http://hgc.rockefeller.edu.

conclusionsThe HGCS should help investigators from diverse fields to identify new disease-causing candidate genes more effectively, via a user-friendly online interface.

Indexed as

Databases, GeneticSoftwareWeb BrowserComputational BiologyGenetic Association StudiesGenomicsHumansReproducibility of ResultsUser-Computer Interface

Identifiers

PMID24694260
PMCPMC4051124

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.