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

GigaDB 2026 Dataset Open access

Read full text
Authors: Jakub Savara, Jirina Manakova, Anna Petráčková, Marek Běhálek, Filip Čtvrtlík, Gajdos P, Minarik J, E Kriegova, Tomáš Papajík, Tomás̆ Novosad
DOI: 10.5524/102806
Cited by: 0

Abstract

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.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genomics and Phylogenetic Studies Genomics and Rare Diseases

Publication details

Journal / source
GigaDB
Publication date
26 February 2026
Language
EN
Document type
Dataset