muc1
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VNtyper Online Backend is a Dockerized pipeline that handles alignment-free MUC1 VNTR genotyping for autosomal dominant tubulointerstitial kidney disease (ADTKD). It exposes a frontend and REST API for job submission, orchestrates asynchronous tasks, and integrates multiple modules to streamline variant analysis for short-read sequencing data.
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Feb 4, 2025 - Shell
MucOneUp simulates diploid MUC1 VNTR references with variable repeats, targeted mutations, and toxic protein detection. It also integrates an Illumina read simulation pipeline for comprehensive genomic benchmarking.
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Feb 4, 2025 - Python
Frontend for vntyper.org, a web tool to perform alignment-free genotyping of the MUC1 VNTR using short-read sequencing data. This site automatically extracts MUC1 data in your browser and uploads only the minimal subset needed for genotyping.
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Feb 4, 2025 - JavaScript
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