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PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Overview of attention for article published in Human Mutation, August 2015
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (62nd percentile)

Mentioned by

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Citations

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110 Dimensions

Readers on

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128 Mendeley
citeulike
1 CiteULike
Title
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
Published in
Human Mutation, August 2015
DOI 10.1002/humu.22851
Pubmed ID
Authors

Orion J Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree Beaulieu, William P Bone, Amanda E Links, Nicole L Washington, Melissa A Haendel, Peter N Robinson, Cornelius F Boerkoel, David Adams, William A Gahl, Kym M Boycott, Michael Brudno

Abstract

The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. To enable the secure sharing of case records by clinicians and rare disease scientists, we have developed the PhenomeCentral portal (https://phenomecentral.org). Each record includes a phenotypic description and relevant genetic information (exome or candidate genes). PhenomeCentral identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole-exome data, and candidate genes entered by the users, enabling both hypothesis-free and hypothesis-driven matchmaking. Users can then contact other submitters to follow up on promising matches. PhenomeCentral incorporates data for over 1,000 patients with rare genetic diseases, contributed by the FORGE and Care4Rare Canada projects, the US NIH Undiagnosed Diseases Program, the EU Neuromics and ANDDIrare projects, as well as numerous independent clinicians and scientists. Though the majority of these records have associated exome data, most lack a molecular diagnosis. PhenomeCentral has already been used to identify causative mutations for several patients, and its ability to find matching patients and diagnose these diseases will grow with each additional patient that is entered. This article is protected by copyright. All rights reserved.

X Demographics

X Demographics

The data shown below were collected from the profiles of 10 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 128 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 4 3%
United States 1 <1%
Iceland 1 <1%
Unknown 122 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 28 22%
Student > Ph. D. Student 21 16%
Student > Master 16 13%
Other 10 8%
Professor 9 7%
Other 23 18%
Unknown 21 16%
Readers by discipline Count As %
Medicine and Dentistry 30 23%
Biochemistry, Genetics and Molecular Biology 29 23%
Agricultural and Biological Sciences 23 18%
Computer Science 11 9%
Neuroscience 3 2%
Other 6 5%
Unknown 26 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 7. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 November 2015.
All research outputs
#5,378,246
of 25,371,288 outputs
Outputs from Human Mutation
#536
of 2,982 outputs
Outputs of similar age
#62,978
of 277,309 outputs
Outputs of similar age from Human Mutation
#15
of 40 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. Compared to these this one has done well and is in the 78th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,982 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done well, scoring higher than 81% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 277,309 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 77% of its contemporaries.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 62% of its contemporaries.