Article
Role of chimeric transcript formation in the pathogenesis of birth defects.
Congenital anomalies - 1 May 2021
Yamada Mamiko, Suzuki Hisato, Watanabe Akiko, Uehara Tomoko, Takenouchi Toshiki, Mizuno Seiji, Kosaki Kenjiro
Abstract excerpt
Chimeric transcripts are formed by chromosomal aberrations. Little is known about the role of chimeric transcripts in the pathogenesis of birth defects. We reanalyzed RNA-seq data in alignment map files from the peripheral blood of 56 patients in whom the diagnoses could not be confirmed by standard exome analysis and transcriptome analysis to screen for chimeric transcripts using a dedicated software, ChimPipe....
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