计算生物学
融合基因
DNA测序
生物
基因组
转录组
基因
生物信息学
遗传学
基因表达
作者
Jan Schröder,Amit Kumar,Stephen Q. Wong
出处
期刊:Methods in molecular biology
日期:2019-01-01
卷期号:: 125-138
被引量:14
标识
DOI:10.1007/978-1-4939-9004-7_9
摘要
Structural gene fusion rearrangements leading to aberrant signaling are frequently detected in many cancer types. Gene fusions have significant prognostic and predictive value and are screened as part of molecular pathology testing for patient management. Many bioinformatic approaches have been developed to detect fusion mutations including whole-genome sequencing, targeted-based hybridization capture, and transcriptome-based approaches. Here we describe the most commonly used experimental methods to sequence and identify gene fusions using either DNA or RNA. We contrast experimental approaches both in the research and diagnostic setting and describe typical bioinformatic pipelines and software packages used to identify fusions.
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