Article

MucOneUp: A Simulation Framework for <i>MUC1</i> -VNTR Variant Benchmarking

2026-05-12

Abstract excerpt

<h4>Summary</h4> Variable number tandem repeats (VNTRs) in the MUC1 gene cause autosomal dominant tubulointerstitial kidney disease when disrupted by frameshift variants, but the GC-rich 60-bp repeat structure (20-125 copies) challenges variant detection. While tools like VNtyper enable MUC1 variant calling, no gold-standard benchmarking datasets exist for systematic performance evaluation. We present MucOneUp,...

Topics

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

Identifiers and source

Literature Corpus work: 797c1e4a-360e-5b13-8add-76db4b470076
DOI: 10.64898/2026.05.08.723876

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

MucOneUp: A Simulation Framework for <i>MUC1</i> -VNTR Variant BenchmarkingDOI 10.64898/2026.05.08.723876Read

Long-Read Sequencing of the <i>MUC1</i> VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and ProgressionSemantic proximity Read

VNtyper 2 enables open-access short-read genotyping of MUC1 VNTR variants in ADTKD at high-speedSemantic proximity Read

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney diseaseSemantic proximity Read

MosaicSim: A Novel Mosaic Variant Simulator Reveals Diminishing Returns of Ultra-High Coverage for Mosaic Variant DetectionSemantic proximity Read

Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease–MUC1 27dupC Pathogenic Variant through Exome SequencingSemantic proximity Read

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation seriesSemantic proximity Read

BVSim: A benchmarking variation simulator mimicking human variation spectrum.Semantic proximity Read

Analysis of clinically relevant large tandem repeats using nanopore sequencing.Semantic proximity Read

Complex structural variation, phylogeny, and disease associations of the mucin pangenomeSemantic proximity Read

MuCor: mutation aggregation and correlation.Semantic proximity Read

Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assaysSemantic proximity Read

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.Semantic proximity Read