ArticleHuman mutation2018
ClinGen Allele Registry links information about genetic variants.
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 53 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
53 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).Genetics in medicine : official journal of the American College of Medical Genetics · 2022Guideline
- A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.Nature genetics · 2020Pooled it
- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.American journal of human genetics · 2026Article
- Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories.bioRxiv : the preprint server for biology · 2026Article
- Distinct mutational landscapes when comparing germline and somatic cancer variants in forty tumor suppressor genes.bioRxiv : the preprint server for biology · 2026Article
- Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.Bioinformatics (Oxford, England) · 2026Article
- MaveMD: A functional data resource for genomic medicine.medRxiv : the preprint server for health sciences · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Informatics at the Frontier of Cancer Research.Cancer research · 2025Review
- Mapping MAVE data for use in human genomics applications.Genome biology · 2025Article
- A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.Neuroscience bulletin · 2025Article
- Guidelines for releasing a variant effect predictor.Genome biology · 2025Article
- Playbook workflow builder: Interactive construction of bioinformatics workflows.PLoS computational biology · 2025Article
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Phenotype Spectrum of TRPM3-Associated Disorders.Annals of neurology · 2025Article
- Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges.Clinical chemistry · 2025Review
- The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- OpenVariant: a toolkit to parse and operate multiple input file formats.Bioinformatics (Oxford, England) · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors.
Funding
Abstract
Effective exchange of information about genetic variants is currently hampered by the lack of readily available globally unique variant identifiers that would enable aggregation of information from different sources. The ClinGen Allele Registry addresses this problem by providing (1) globally unique "canonical" variant identifiers (CAids) on demand, either individually or in large batches; (2) access to variant-identifying information in a searchable Registry; (3) links to allele-related records in many commonly used databases; and (4) services for adding links to information about registered variants in external sources. A core element of the Registry is a canonicalization service, implemented using in-memory sequence alignment-based index, which groups variant identifiers denoting the same nucleotide variant and assigns unique and dereferenceable CAids. More than 650 million distinct variants are currently registered, including those from gnomAD, ExAC, dbSNP, and ClinVar, including a small number of variants registered by Registry users. The Registry is accessible both via a web interface and programmatically via well-documented Hypertext Transfer Protocol (HTTP) Representational State Transfer Application Programming Interface (REST-APIs). For programmatic interoperability, the Registry content is accessible in the JavaScript Object Notation for Linked Data (JSON-LD) format. We present several use cases and demonstrate how the linked information may provide raw material for reasoning about variant's pathogenicity.
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.