Fusion genes and their discovery using high throughput sequencing.
Fusion genes and their discovery using high throughput sequencing.
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DOI：
10.1016/j.canlet.2013.01.011
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发表时间：
2013-11-01
期刊：
影响因子：
9.7
通讯作者：
Nykter, M.
中科院分区：
文献类型：
--
作者：
Annala, M. J.;Parker, B. C.;Zhang, W.;Nykter, M.
融合基因是将两个或多个原始基因的部分结合在一起的杂交基因。它们可以由于染色体重排或异常转录而形成，并且已被证明是许多人类癌症恶性转化和进展的驱动因素。融合基因的生物学意义及其对癌细胞的特异性使其成为分子治疗的极佳靶点。融合基因也被用作诊断和预后标志物，以确认癌症诊断和监测对分子治疗的反应。高通量测序使得系统地发现融合基因在多种癌症类型。在这篇综述中，我们描述了融合基因在癌症中的历史以及融合基因形成和影响细胞功能的方式。我们还描述了从高通量测序实验中检测融合基因的计算方法，以及导致融合基因错误发现的最常见错误来源。
Fusion genes are hybrid genes that combine parts of two or more original genes. They can form as a result of chromosomal rearrangements or abnormal transcription, and have been shown to act as drivers of malignant transformation and progression in many human cancers. The biological significance of fusion genes together with their specificity to cancer cells has made them into excellent targets for molecular therapy. Fusion genes are also used as diagnostic and prognostic markers to confirm cancer diagnosis and monitor response to molecular therapies. High-throughput sequencing has enabled the systematic discovery of fusion genes in a wide variety of cancer types. In this review, we describe the history of fusion genes in cancer and the ways in which fusion genes form and affect cellular function. We also describe computational methodologies for detecting fusion genes from high-throughput sequencing experiments, and the most common sources of error that lead to false discovery of fusion genes.
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DOI：
10.3324/haematol.2009.011536
发表时间：
2010-01-01
期刊：
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
影响因子：
--
作者：
Chase, Andrew;Ernst, Thomas;Cross, Nicholas C. P.
通讯作者：
Cross, Nicholas C. P.
影响因子：
7
作者：
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影响因子：
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作者：
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通讯作者：
Rosenfeld MG
影响因子：
3.7
作者：
Houseley J;Tollervey D
通讯作者：
Tollervey D