Online MUC1 VNTR Genotyping for ADTKD Diagnostics
Screen BAM files for MUC1 coding VNTR mutations using VNtyper 2.0. Fast, secure, browser-based analysis for autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1, MCKD).
Screen BAM files for MUC1 coding VNTR mutations using VNtyper 2.0. Fast, secure, browser-based analysis for autosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1, MCKD).
Read our preprint. The methods, validation, and benchmarks behind VNtyper 2 and VNtyper Online are now described in detail on medRxiv. Read the preprint →
Please cite: Popp B, Saei H, Teltsh O, et al. VNtyper 2 enables open-access short-read genotyping of MUC1 VNTR variants in ADTKD at high-speed. medRxiv. 2026. doi: 10.64898/2026.05.27.26352937. (Preprint)
Original method: Saei H, et al. VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease. iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. PMID: 37456840; PMCID: PMC10338300.