ArticleHuman mutation2018
The progression of the ClinGen gene clinical validity classification over time.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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.
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.
Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults.The Medical journal of Australia · 2025Article
- Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.Journal of neuromuscular diseases · 2025Article
- Gene-Disease Relationships in Kidney Genetics.Seminars in nephrology · 2025Review
- Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing.Genome medicine · 2025Article
- ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.The Journal of allergy and clinical immunology · 2025Article
- Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.Genetics in medicine open · 2025Article
- Genetic factors associated with reasons for clinical trial stoppage.Nature genetics · 2024Article
- Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.Journal of thrombosis and haemostasis : JTH · 2024Article
- Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.BMC medical genomics · 2023Article
- Article
- Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Human mutation · 2022Article
- Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.Circulation · 2021Article
- Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.Human mutation · 2020Article
- ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
In order for ClinGen to maintain up-to-date gene-disease clinical validity classifications for use by clinicians and clinical laboratories, an appropriate timeline for reevaluating curated gene-disease associations will need to be determined. To provide guidance on how often a gene-disease association should be recurated, a retrospective analysis of 30 gene curations was performed. Curations were simulated at one-year intervals starting with the year of the first publication to assert disease-causing variants in the gene to observe trends in the classification over time, as well as factors that influenced changes in classification. On average, gene-disease associations spent the least amount of time in the "Moderate" classification before progressing to "Strong" or "Definitive." In contrast, gene-disease associations that spent five or more years in the "Limited" classification were most likely to remain "Limited" or become "Disputed/Refuted." Large population datasets contributed to the reclassification of several gene-disease associations from "Limited" to "Disputed/Refuted." Finally, recent advancements in sequencing technology correlated with an increase in the quantity of case-level evidence that was curated per paper. This study provided a number of key points to consider when determining how often to recurate a gene-disease association.
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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.