Article

criTRia: A Classification System and Evidence Criteria for Tandem Repeat Locus-Disease Relationships

2026-07-06

Abstract excerpt

<h4>Introduction: </h4> Tandem repeats (TRs), including short tandem repeats (1-6 bp motifs) and variable number tandem repeats (7+ bp motifs), have been linked to more than 50 Mendelian diseases. However, current frameworks for evaluating gene-disease relationships do not adequately address TR-specific complexities. As a result, proposed TR locus-disease relationships are often incorrectly classified, under-evalu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fbe360e2-e619-59c9-af3d-cacd48d6541f
DOI: 10.64898/2026.07.04.26357279

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

criTRia: A Classification System and Evidence Criteria for Tandem Repeat Locus-Disease RelationshipsDOI 10.64898/2026.07.04.26357279Read

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease lociSemantic proximity Read

Defining a tandem repeat catalog and variation clusters for genome-wide analysesSemantic proximity Read

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insightsSemantic proximity Read

Resolving the unsolved: Comprehensive assessment of tandem repeats at scaleSemantic proximity Read

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation FrameworkSemantic proximity Read

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.Semantic proximity Read

Comparative analyses of human single- and multilocus tandem repeats.Semantic proximity Read

TRbase: a database relating tandem repeats to disease genes for the human genome.Semantic proximity Read

Locus Reference Genomic (LRG) resource: webinarSemantic proximity Read

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Semantic proximity Read

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome ResourceSemantic proximity Read

A practical guide to identifying associations between tandem repeats and complex human traits using consensus genotypes from multiple tools.Semantic proximity Read