Open access
Sep 2026
Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexity
TruPath Genome achieves high-resolution detection of SNVs and indels alongside long-range phasing for CNVs and structural variant (SV) refinement and facilitates telomere-to-telomere assemblies and pangenome development, advancing the understanding of genome biology at an unprecedented scale.
Luca Bertoli, Matteo Orlandi, Aurelia Iuliana Timis et al.
· npj Genomic Medicine · 0 citations