Rambaldi Davide, Felice Barbara, Praz Viviane, Bucher Philip, Cittaro Davide, Guffanti Alessandro
The IFOM-IEO Campus, Via Adamello, 16-20139 Milano, Italy.
BMC Bioinformatics. 2007 Mar 8;8 Suppl 1(Suppl 1):S17. doi: 10.1186/1471-2105-8-S1-S17.
The Affymetrix technology is nowadays a well-established method for the analysis of gene expression profiles in cancer research studies. However, changes in gene expression levels are not the only way to link genes and disease. The existence of gene isoforms specifically linked with cancer or apoptosis is increasingly found in literature. Hence it is of great interest to associate the results of a gene expression study with updated evidences on the transcript structure and its possible variants.
We present here a web-based software tool, Splicy, whose primary task is to retrieve data on the mapping of Affymetrix probes to single exons of gene transcripts and displaying graphically this information projected on the gene physical structure. Starting from a list of Affymetrix probesets the program produces a series of graphical displays, each relative to a transcript associated with the gene targeted by a given probe. The information on the transcript-by-transcript and exon-by-exon mapping of probe pairs can be retrieved both graphically and in the form of tab-separated files. The mapping of single probes to NCBI RefSeq or EMBL cDNAs is handled by the ISREC mapping tables used in the CleanEx Expression Reference Database Project. We currently maintain these mappings for most popular human and mouse Affymetrix chips, and Splicy can be queried for matches with human and mouse NCBI RefSeq or EMBL cDNAs.
Splicy generates probeset annotations and images describing the relation between the single probes and intron/exon structure of the target transcript in all its known variants. We think that Splicy will be useful for giving to the researcher a clearer picture of the possible transcript variants linked with a given gene and an additional view on the interpretation of microarray experiment data. Splicy is publicly available and has been realized in the framework of a bioinformatics grant from the Italian Cancer Research Association.
如今,Affymetrix技术是癌症研究中分析基因表达谱的一种成熟方法。然而,基因表达水平的变化并非将基因与疾病联系起来的唯一方式。文献中越来越多地发现存在与癌症或细胞凋亡特异性相关的基因异构体。因此,将基因表达研究的结果与转录本结构及其可能变体的最新证据相关联,具有极大的意义。
我们在此展示一个基于网络的软件工具Splicy,其主要任务是检索有关Affymetrix探针映射到基因转录本单个外显子的数据,并以图形方式显示投射在基因物理结构上的这些信息。该程序从Affymetrix探针集列表开始,生成一系列图形显示,每个显示都与给定探针靶向的基因相关的转录本有关。探针组逐个转录本和逐个外显子映射的信息既可以图形方式检索,也可以制表符分隔文件的形式检索。单个探针到NCBI RefSeq或EMBL cDNA的映射由CleanEx表达参考数据库项目中使用的ISREC映射表处理。我们目前为最常用的人类和小鼠Affymetrix芯片维护这些映射,并且可以查询Splicy以查找与人类和小鼠NCBI RefSeq或EMBL cDNA的匹配项。
Splicy生成探针集注释和图像,描述单个探针与目标转录本所有已知变体的内含子/外显子结构之间的关系。我们认为Splicy将有助于研究人员更清楚地了解与给定基因相关的可能转录本变体,并为微阵列实验数据的解释提供额外的视角。Splicy是公开可用的,并且是在意大利癌症研究协会的一项生物信息学资助框架内实现的。