2009 March 5; 458(7234): 97–101. doi:10.1038/nature07638 | Christopher A. Maher, Chandan Kumar-Sinha, Xuhong Cao, Shanker Kalyana-Sundaram, Bo Han, Xiaojun Jing, Lee Sam, Terrence Barrette, Nallasivam Palanisamy, Arul M. Chinnaiyan
This study demonstrates the effectiveness of transcriptome sequencing in detecting gene fusions in cancer. The authors used both long and short read transcriptome sequencing to identify novel gene fusions in cancer cell lines and tissues. They successfully "re-discovered" known gene fusions such as *BCR-ABL1* and *TMPRSS2-ERG* and identified several new gene fusions, including *USP10-ZDHHC7*, *HJURP-EIF4E2*, *INPP4A-HJURP*, and *SLC45A3-ELK4*. The study highlights the importance of integrating long and short read sequencing data to reduce false positives and improve the detection of true gene fusions. The authors also propose a classification system for chimeric transcripts based on their chromosomal location and mechanism of formation. The findings underscore the potential of transcriptome sequencing as a powerful tool for characterizing gene fusions in cancer, which can serve as diagnostic markers and therapeutic targets.This study demonstrates the effectiveness of transcriptome sequencing in detecting gene fusions in cancer. The authors used both long and short read transcriptome sequencing to identify novel gene fusions in cancer cell lines and tissues. They successfully "re-discovered" known gene fusions such as *BCR-ABL1* and *TMPRSS2-ERG* and identified several new gene fusions, including *USP10-ZDHHC7*, *HJURP-EIF4E2*, *INPP4A-HJURP*, and *SLC45A3-ELK4*. The study highlights the importance of integrating long and short read sequencing data to reduce false positives and improve the detection of true gene fusions. The authors also propose a classification system for chimeric transcripts based on their chromosomal location and mechanism of formation. The findings underscore the potential of transcriptome sequencing as a powerful tool for characterizing gene fusions in cancer, which can serve as diagnostic markers and therapeutic targets.