ArticleCurrent protocols in human genetics2017
Matchmaker Exchange.
Article in Current protocols in human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
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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.
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.
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Who cites it
50 citing papers in PubMed.
- Information content as a health system screening tool for rare diseases.NPJ digital medicine · 2025Article
- HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.Brain : a journal of neurology · 2025Article
- First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case.American journal of human genetics · 2025Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.Genome research · 2024Article
- Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.European journal of human genetics : EJHG · 2024Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.medRxiv : the preprint server for health sciences · 2024Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.medRxiv : the preprint server for health sciences · 2024Article
- GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM.BMC bioinformatics · 2024Article
- Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Hypothesis generation for rare and undiagnosed diseases through clustering and classifying time-versioned biological ontologies.PloS one · 2024Article
- Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023Review
- Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.Brain : a journal of neurology · 2022Article
- TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.American journal of human genetics · 2022Article
- Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.Genes · 2022Article
- Variants inHGG advances · 2022Article
- Variant-level matching for diagnosis and discovery: Challenges and opportunities.Human mutation · 2022Article
- Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.Human mutation · 2022Article
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).Orphanet journal of rare diseases · 2022Article
- Centers for Mendelian Genomics: A decade of facilitating gene discovery.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicism; variants of uncertain functional significance; technically inaccessible areas of the genome; incorrect mode of inheritance investigated; and inadequate communication between clinicians and basic scientists with knowledge of particular genes, proteins, or biological systems. To facilitate such communication and improve the search for patients or model organisms with similar phenotypes and variants in specific candidate genes, we have developed the Matchmaker Exchange (MME). MME was created to establish a federated network connecting databases of genomic and phenotypic data using a common application programming interface (API). To date, seven databases can exchange data using the API (GeneMatcher, PhenomeCentral, DECIPHER, MyGene2, matchbox, Australian Genomics Health Alliance Patient Archive, and Monarch Initiative; the latter included for model organism matching). This article guides usage of the MME for rare disease gene discovery. © 2017 by John Wiley & Sons, Inc.
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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.