ArticleClinical genetics2013
A systematic approach to assessing the clinical significance of genetic variants.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers, 2 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
105 citing papers in PubMed, 2 syntheses or guidelines pooled it, 189 citations in OpenAlex.
- WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.BMC medical genomics · 2023Pooled it
- Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Pooled it
- The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.Trials · 2014Trial
- Perspective for CAR T-Cell Therapy in Underrepresented Populations: A Hypothesis-Generating CD19 Genomic Analysis.Journal of personalized medicine · 2026Article
- Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review.Frontiers in oncology · 2026Article
- Uncovering genetic variations in HTR2A and miRNAs drivers of breast cancer risk in African American women.Journal of breast cancer research · 2026Article
- Structured Application of Genetic Testing in a Pediatric Kidney Clinic.Journal of the American Society of Nephrology : JASN · 2026Article
- Epidemiological and genetic insights of Usher syndrome in Turkish population: A cross-sectional preliminary study from University of Health Sciences, Turkey.The Journal of international medical research · 2025Article
- Male Breast Cancer Brain Metastases: Genetic Profiles and Radiosurgery Outcomes.Neurosurgery practice · 2025Article
- The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.Molecular biology reports · 2025Review
- VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.Computational and structural biotechnology journal · 2025Article
- Review
- Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.ESC heart failure · 2024Article
- Review
- Article
- Comparing variants related to chronic diseases from genome-wide association study (GWAS) and the cancer genome atlas (TCGA).BMC medical genomics · 2023Article
- Clinical and functional analysis of the germlineCold Spring Harbor molecular case studies · 2023Article
- In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.Molecular genetics & genomic medicine · 2023Article
- [Genomic newborn screening-research approaches, challenges, and opportunities].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine.Database : the journal of biological databases and curation · 2023Article
45 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
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Molecular genetic testing informs diagnosis, prognosis, and risk assessment for patients and their family members. Recent advances in low-cost, high-throughput DNA sequencing and computing technologies have enabled the rapid expansion of genetic test content, resulting in dramatically increased numbers of DNA variants identified per test. To address this challenge, our laboratory has developed a systematic approach to thorough and efficient assessments of variants for pathogenicity determination. We first search for existing data in publications and databases including internal, collaborative and public resources. We then perform full evidence-based assessments through statistical analyses of observations in the general population and disease cohorts, evaluation of experimental data from in vivo or in vitro studies, and computational predictions of potential impacts of each variant. Finally, we weigh all evidence to reach an overall conclusion on the potential for each variant to be disease causing. In this report, we highlight the principles of variant assessment, address the caveats and pitfalls, and provide examples to illustrate the process. By sharing our experience and providing a framework for variant assessment, including access to a freely available customizable tool, we hope to help move towards standardized and consistent approaches to variant assessment.
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What OpenQuestion holds
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.