Undiagnosed rare disease cohort from Seoul National University Hospital (SNUH): v1.0.0

This dataset contains VCF files generated from long-read sequencing analyses of 40 individuals with rare genetic diseases. Variants were derived from pangenome graphs constructed using the minigraph-cactus pipeline (v2.9.2). Graph-based variants were obtained through deconstruction and subsequent vcfbub processing to produce standardized multisample VCF representations. Genomic coordinates are reported relative to the GENCODE release 46 reference (GRCh38.primary_assembly.genome.fa). Two multisample VCFs are provided in this dataset. The first VCF (SNUH.vcf.gz) includes 77 samples (1 CHM13 reference, 47 HPRC samples, and 29 rare disease samples) based on high-depth (30×) long-read assemblies from PacBio and Oxford Nanopore sequencing. The second VCF (SNUH_lowDepth.vcf.gz) includes 12 samples (1 CHM13 reference and 11 rare disease samples) based on low-depth (10×) PacBio long-read assemblies.