Article

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

2026-06-03

Abstract excerpt

<h4>Background</h4> ADTKD- MUC1 is one of the major entities of ADTKD caused by frameshift variants in the MUC1 VNTR that standard short-read sequencing fails to detect. Existing 59dupC-targeted probe-extension assays do not allow for broad screening and cannot detect atypical non-dupC variants. Recently, VNtyper, a Kestrel-based genotyping pipeline with optional code-adVNTR cross-validation for MUC1 VNTR geno...

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Literature Corpus work: 9bd7ef25-de61-5034-92ff-c508c8618599
DOI: 10.64898/2026.05.27.26352937

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