Supporting data for "Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics"

The project focused on comparing the performance of structural variant (SV) detection from human whole-genome samples generated using short-read sequencing, multiple long-read sequencing platforms, and optical genome mapping. SV sets are provided for two reference genomes: hg38/GRCh38 and the gapless T2T-CHM13 assembly. To compare different technologies and reference genomes, we introduced an innovative multi-platform approach called LongReadChecker (LoReC), which improves SV comparison and annotation.