P597: Clinical validation of targeted somatic structural variant detection in pediatric cancer via long-read sequencing

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Aravindh Nagarajan, Byunggil Yoo, Emily Farrow, John C. Herriges, Elena A. Repnikova, Lei Zhang, Tomi Pastinen, Carol Saunders, Midhat S. Farooqi, Lisa A. Lansdon
DOI: 10.1016/j.gimo.2026.104088
Cited by: 0

Abstract

Structural variants (SVs) leading to gene fusions are one of the most common classes of driver mutations in pediatric cancer. Clinical SV detection relies on a combination of techniques including karyotyping, FISH, microarray, RNA fusion testing, and, more recently, optical genome mapping. SV detection via long-read genome sequencing (lr-GS) offers the advantage of breakpoint and complex event resolution; however, its implementation has been limited by the lack of an optimized somatic SV caller, among other factors.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Cancer Genomics and Diagnostics Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104088–104088
Publication date
1 January 2026
Language
EN