Open access
Sep 2026
Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexity
A single genomic assay that delivers complete information across variant classes remains an aspirational goal. Currently, researchers and clinicians rely on an inefficient, expensive combination of short-read sequencing for single-nucleotide variants (SNVs) and small indels, comparative genomic hybridization (CGH) ar...
Luca Bertoli, Matteo Orlandi, Aurelia Iuliana Timis et al.
· npj Genomic Medicine · 0 citations