MucOneUp MUC1-VNTR Benchmarking Dataset — Record 1: Simulation Inputs and Simulated Reads
收藏资源简介:
Simulation inputs and simulated sequencing reads for the MucOneUp MUC1-VNTR benchmarking study. Contains haplotype FASTA files, JSON metadata, and VNTR structure files for 292 diploid pairs across three experiments: (1) multi-mutation benchmark — 220 pairs carrying 13 frameshift mutations; (2) VNTR length effect — 72 dupC pairs with fixed 60-repeat vs variable (20–130) haplotypes; (3) coverage titration — Illumina reads downsampled to 75/50/25/12.5%. Platforms: Illumina WGS (150× via w-Wessim2), PacBio HiFi and ONT amplicon (500× via PBSIM3). Reference assembly: GRCh38/hg38. MucOneUp version: 0.44.4. Companion to Record 2 (tool results) and the associated Bioinformatics Application Note. See README.md inside the record for file manifest and data-reuse notes.



