Scientific Data Donation for ADTKD Research

Contribute to the ongoing global calibration of MUC1 VNTR diagnostic thresholds. Your donated decision metrics help academic and clinical laboratories establish reliable capture-kit specific coverage models for Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-MUC1).

GDPR Article 9 Informed Consent Notice

Under the EU General Data Protection Regulation (GDPR Art. 9), genetic and health information requires explicit, informed consent. Data controller: Dr. Bernt Popp, Berlin Institute of Health at Charité / Universitätsmedizin Berlin (support@vntyper.org).

What is donated: Only anonymous pipeline summary statistics (decision-bearing metrics, coverage depth, target kit, sequencing platform, and coarse phenotype tags). Raw genomic reads (BAM, CRAM, FASTQ) are strictly excluded and will never be accepted or stored. All sample identifiers are irreversibly hashed client-side before submission.

1. VNtyper Result Archive

Upload your downloaded VNtyper .zip result file. Raw sequence files are automatically checked and must not be present.

2. Sequencing & Library Preparation
3. Diagnostic Finding Category
Negative controls are essential: Benchmarking commercial kits requires verified negative samples to calculate specificity and establish minimum-depth thresholds. Thank you for contributing negative data!
4. Clinical Features & Coarse Demographics
Only year and month are accepted to protect privacy.
Click tags below to toggle common terms:
HP:0000112 (Renal tubular dysfunction) HP:0000083 (Renal insufficiency) HP:0000100 (Nephronophthisis) HP:0001427 (Hyperuricemia) HP:0000077 (Abnormal renal morphology)