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Comprehensive identification of pathogenic variants in retinoblastoma by long- and short-read sequencing.

Cancer letters - 28 Aug 2024

Zheng Jingjing, Li Tong, Ye Huijing, Jiang Zehang, Jiang Wenbing, Yang Huasheng, Wu Zhikun, Xie Zhi

Abstract excerpt

Retinoblastoma (RB) is the most common intraocular malignancy in childhood. The causal variants in RB are mostly characterized by previously used short-read sequencing (SRS) analysis, which has technical limitations in identifying structural variants (SVs) and phasing information. Long-read sequencing (LRS) technology has advantages over SRS in detecting SVs, phased genetic variants, and methylation. In this...

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PMID: 39009069
DOI: 10.1016/j.canlet.2024.217121

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