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Frontiers of Medicine >> 2013, Volume 7, Issue 3 doi: 10.1007/s11684-013-0265-3

Identification of cancer gene fusions based on advanced analysis of the human genome or transcriptome

Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA

Available online: 2013-09-05

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Abstract

Many gene fusions have been recognized as important diagnostic and/or prognostic markers in human malignancies. In recent years, novel gene fusions have been identified in cases without prior knowledge of the genetic background. Accompanied by a powerful computational data analysis method, new genome-wide screening approaches were used to detect cryptic genomic aberrations. This review focused on advanced genome-wide screening approaches in fusion gene identification, such as microarray-based approaches, next-generation sequencing, and NanoString nCounter gene expression system. The fundamental rationale and strategy for fusion gene identification using each biotech platform are also discussed.

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