P168: MUC1 Gene Coding-Vntr Alignment-Free Genotyping Approach Augmented ADTKD Diagnosis in a Cohort of 3735 Patients with Hereditary Kidney Diseases

The human genome includes tandem repeats with variable length (VNTR) and a subset of these repeats have been associated with rare human diseases. Specific frameshift variants in the coding-VNTR of the MUC1 gene cause autosomal dominant tubulointerstitial kidney disease – MUC1 (ADTKD-MUC1). Calling variants from VNTR using short-read sequencing (SRS) is challenging due to poor read mappability, motif complexity (34*60-mer motifs are known up to now), variable repetition, and enormous motif sequence similarity.