ArticleHuman mutation2018
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
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 116 papers, 1 of them a synthesis 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
116 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.Human mutation · 2021Guideline
- NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.European journal of human genetics : EJHG · 2026Article
- Machine-Readable Database for Genotype-Phenotype Analyses in Rare Diseases Using FKTN-related Congenital Muscular Dystrophies as a Prototype.Research square · 2026Article
- Stratified Use of Genetic Testing in Liver Disease Improves Diagnostic Yield and Clinical Impact.International journal of molecular sciences · 2026Article
- The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses.Prenatal diagnosis · 2026Article
- Exome sequencing points to pathogenic ATM variants in gastric cancer.European journal of human genetics : EJHG · 2026Article
- A Case of Monozygotic Twins Carrying a Novel Loss-of-Function Variant in the MYCBP2 Gene, Presenting With Microcephaly, Ectopic Kidney and Growth Restriction.Prenatal diagnosis · 2026Article
- CLUAP1 variants cause non-syndromic retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- A Novel PPP1R12A Splice-Site Variant Identified in a Female Fetus With Perineal Hamartoma.Prenatal diagnosis · 2026Article
- Prenatal Phenotype of Common Arterial Trunk With Tricuspid Atresia and Bilateral Cleft Lip-Palate With Novel MASP1 Variant.Prenatal diagnosis · 2026Article
- Whole genome sequencing in oesophageal adenocarcinoma unmasks potential precision therapies.BMC cancer · 2026Article
- Article
- Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls.medRxiv : the preprint server for health sciences · 2026Article
- Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.European journal of human genetics : EJHG · 2026Article
- Prenatal Diagnosis of Poretti-Boltshauser Syndrome: A Case of Live Birth with Confirmed LAMA1 Variants.Cerebellum (London, England) · 2026Article
- Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature.The Journal of molecular diagnostics : JMD · 2026Article
- The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories.bioRxiv : the preprint server for biology · 2026Article
- Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.Molecular psychiatry · 2026Article
- Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.European journal of human genetics : EJHG · 2026Article
56 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
5 authors.
Funding
Abstract
The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence variants in scientific publications, clinical reports, and databases. However, the HGVS recommendations are complex and this often results in inaccurate variant descriptions being reported. The open-source hgvs Python package (https://github.com/biocommons/hgvs) provides a programmatic interface for parsing, manipulating, formatting, and validating of variants according to the HGVS recommendations, but does not provide a user-friendly Web interface. We have developed a Web-based variant validation tool, VariantValidator (https://variantvalidator.org/), which utilizes the hgvs Python package and provides additional functionality to assist users who wish to accurately describe and report sequence-level variations that are compliant with the HGVS recommendations. VariantValidator was designed to ensure that users are guided through the intricacies of the HGVS nomenclature, for example, if the user makes a mistake, VariantValidator automatically corrects the mistake if it can, or provides helpful guidance if it cannot. In addition, VariantValidator has the facility to interconvert genomic variant descriptions in HGVS and Variant Call Format with a degree of accuracy that surpasses most competing solutions.
Indexed as
Identifiers
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.