ArticleHuman mutation2017
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 4 of them syntheses that pooled 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.
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
62 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.Frontiers in endocrinology · 2025Pooled it
- A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.Reproduction (Cambridge, England) · 2022Pooled it
- A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.Human reproduction update · 2021Pooled it
- A systematic review and standardized clinical validity assessment of male infertility genes.Human reproduction (Oxford, England) · 2019Pooled it
- Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility.Journal of clinical medicine · 2026Review
- criTRia: A Classification System and Evidence Criteria for Tandem Repeat Locus-Disease Relationships.medRxiv : the preprint server for health sciences · 2026Article
- A comprehensive review for defining cut-off values of oocyte, zygote, and embryo maturation arrest (OZEMA) due to maternal-effect genes: towards the establishment of clinical criteria.Human reproduction (Oxford, England) · 2026Review
- Variant-specific RNA testing resolves variants of uncertain significance in exome testing.BMC genomics · 2026Article
- Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.Pediatric research · 2026Article
- Current gene panels for female infertility: gaps between evidence and clinical application.Journal of assisted reproduction and genetics · 2026Review
- Comprehensive adjudication identifies 111 high-confidence loci for Alzheimer's disease and related dementias.medRxiv : the preprint server for health sciences · 2026Article
- Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.Journal of assisted reproduction and genetics · 2026Article
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing.Genetics in medicine open · 2026Article
- SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.Disease models & mechanisms · 2025Article
- Gene-Disease Relationships in Kidney Genetics.Seminars in nephrology · 2025Review
- Association ofJCO precision oncology · 2025Article
- Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing.Genome medicine · 2025Article
- Making Sense of Missense: Benchmarking MutScore for Variant Interpretation in Inherited Cardiac Diseases.Molecular diagnosis & therapy · 2025Article
- Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.Scientific reports · 2025Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing the clinical validity of gene-disease relationships to interpret new research findings in a clinical context and increase the diagnostic rate. The specifics of a gene-disease scoring system adapted for use in a clinical laboratory are described. In turn, clinical validity scoring of gene-disease relationships can inform exome reporting for the identification of new or the upgrade of previous, clinically relevant gene findings. Our retrospective analysis of all reclassification reports from the first 4 years of diagnostic exome sequencing showed that 78% were due to new gene-disease discoveries published in the literature. Among all exome positive/likely positive findings in characterized genes, 32% were in genetic etiologies that were discovered after 2010. Our data underscore the importance and benefits of active and up-to-date curation of a gene-disease database combined with critical clinical validity scoring and proactive reanalysis in the clinical genomics era.
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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.