Evidence map›Paper›PMID 35224820›Full record

ArticleHuman mutation2022

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.

J Michael Harnish, Lucian Li, Sanja Rogic, Guillaume Poirier-Morency, Seon-Young Kim, Undiagnosed Diseases Network, Kym M Boycott, Michael F Wangler, Hugo J Bellen, Philip Hieter and 3 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.8field-weighted citation impact, top 9% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 15 citations in OpenAlex.

  1. Global partnerships in rare disease research.Disease models & mechanisms · 2025
    Article
  2. Functional assays inGenome research · 2025
    Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Role ofInternational journal of molecular sciences · 2022
    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

13 authors at 3 institutions in 2 countries.

J Michael HarnishDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
Lucian LiJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, USA.
Sanja RogicMichael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada.
Guillaume Poirier-MorencyMichael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada.
Seon-Young KimJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, USA.
Undiagnosed Diseases Network
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0003-4186-8052
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.ORCID 0000-0001-5245-5910
Hugo J BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.ORCID 0000-0001-5992-5989
Philip HieterMichael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada.
Paul PavlidisMichael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0002-0426-5028
Zhandong LiuJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, USA.ORCID 0000-0002-7608-0831
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.ORCID 0000-0003-2172-8036
Baylor College of Medicine · USUniversity of British Columbia · CAUniversity of Ottawa · CA

Funding

Zebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5M
Howard Hughes Medical InstituteNIH HHS U54NS093793NINDS NIH HHS U54 NS093793
6 · The paper itself

Abstract

Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. Although this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients (affected individuals) can help resolve such medical mysteries and provide insights into in vivo function of human genes. Furthermore, facilitating interactions between scientists and research funders, including nonprofit organizations or commercial entities, can dramatically reduce the time to translate discoveries from bench to bedside. Several systems designed to connect clinicians and researchers with a shared gene of interest have been successful. However, these platforms exclude some stakeholders based on their role or geography. Here we describe ModelMatcher, a global online matchmaking tool designed to facilitate cross-disciplinary collaborations, especially between scientists and other stakeholders of rare and undiagnosed disease research. ModelMatcher is integrated into the Rare Diseases Models and Mechanisms Network and Matchmaker Exchange, allowing users to identify potential collaborators in other registries. This living database decreases the time from when a scientist or clinician is making discoveries regarding their genes of interest, to when they identify collaborators and sponsors to facilitate translational and therapeutic research.

Indexed as

Undiagnosed DiseasesDatabases, FactualHumansRare DiseasesRegistriesResearch Personnelcollaborationfunctional studiesMatchmaker Exchange (MME)matchmakingmodel organismsrare diseasesRare Diseases Models and Mechanisms (RDMM) Networkundiagnosed diseasesUndiagnosed Diseases Network (UDN)variants of unknown significance (VUS)

Identifiers

PMID35224820
PMCPMC9133126
OpenAlexW4214657957

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.