Feasibility of Low-Pass Whole Genome Sequencing for Detecting Somatic Copy Number Alterations in Formalin-Fixed Uveal Melanoma Specimens.

ABSTRACT:

Purpose

Low-pass whole genome sequencing (LP-WGS), which provides genome-wide coverage ranging from ×0.5 to ×5.0, has recently emerged as a promising tool for identifying chromosomal abnormalities in clinical samples. Here, we sought to investigate the feasibility and clinical utility of LP-WGS in detecting somatic copy number alterations (SCNAs) using formalin-fixed paraffin-embedded (FFPE) tissue samples from patients with uveal melanoma (UM) in an Asian population.

Methods

A retrospective study was conducted on 11 Taiwanese patients with UM who underwent enucleation between 2007 and 2021. Four participants had undergone additional treatment modalities prior to enucleation, including proton therapy (n = 2), external-beam radiation therapy (n = 1), and gamma knife (n = 1).

SUBMITTER: Huang CY 

PROVIDER: S-EPMC12758428 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature