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COMPOSITIONS AND METHODS FOR IDENTIFYING AND CHARACTERIZING GENE TRANSLOCATIONS, REARRANGEMENTS AND INVERSIONS

机译:鉴定和表征基因易位,重排和反演的组合物和方法

摘要

In alternative embodiments, provided are methods comprising use of FISH, IHC or equivalent gene fusion detection protocols, and gene sequencing, wherein optionally the gene sequencing is high throughput or next generation gene sequencing, for the identification and characterization of gene abnormalities such as gene breakages; optionally gene breakages comprise gene translocation, gene rearrangements and/or gene inversions. In alternative embodiments, genes or transcripts are analyzed from individuals suspected of having cancer, and the analysis is carried out on biological samples taken from these individuals. This identification and characterization of gene abnormalities can be used in the diagnosis and treatment of a cancer.
机译:在替代实施方案中,提供了包括使用FISH,IHC或等效基因融合检测方案和基因测序的方法,其中任选地,基因测序是高通量或下一代基因测序,用于鉴定和表征基因异常例如基因断裂。 ;任选地,基因断裂包括基因易位,基因重排和/或基因倒置。在替代实施方案中,从怀疑患有癌症的个体分析基因或转录本,并且对从这些个体获取的生物学样品进行分析。基因异常的这种鉴定和表征可用于癌症的诊断和治疗。

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