Gene fusions are nucleotide sequences formed due to errors in replication and transcription control. These errors, resulting from chromosomal translocation, transcriptional errors or trans-splicing, vary from cell to cell. The identification of fusions has become critical as key biomarkers for disease diagnosis and therapy in various cancers, significantly influencing modern medicine. Chimeric Transcripts and RNA-Sequencing database version 8.0 (ChiTaRS 8.0; http://biosrv.org/chitars) is a specialized repository for human chimeric transcripts, containing 47 445 curated RNA transcripts and over 100 000 chimeric sequences in humans. This updated database provides unique information on 1055 chimeric breakpoints derived from public datasets using chromosome conformation capture techniques (the Hi-C datasets). It also includes an expanded list of gene fusions that are potential drug targets, and chimeric breakpoints across 934 cell lines, positioning ChiTaRS 8.0 as a valuable resource for testing personalized cancer therapies. By utilizing text mining on a curated selection of disease-specific RNA-sequencing data from public datasets, as well as patient blood and plasma samples, we have identified novel chimeras-particularly in diseases such as oral squamous cell carcinoma and glioblastoma-now catalogued in ChiTaRS. Thus, ChiTaRS 8.0 serves as an enhanced fusion transcript repository that incorporates insights into the functional landscape of chimeras in cancers and other complex diseases, based on liquid biopsy results.

中文翻译：

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ChiTaRS 8.0：嵌合转录本和 RNA-seq 数据的综合数据库，在液体活检中的应用。


基因融合是由于复制和转录控制错误而形成的核苷酸序列。这些错误是由染色体易位、转录错误或反式剪接引起的，因细胞而异。融合的鉴定已成为各种癌症疾病诊断和治疗的关键生物标志物，对现代医学产生了重大影响。Chimeric Transcripts and RNA-Sequencing database version 8.0 （ChiTaRS 8.0;http://biosrv.org/chitars） 是人类嵌合转录本的专用存储库，包含 47445 个精选的 RNA 转录本和超过 100000 个人类嵌合序列。这个更新的数据库提供了来自使用染色体构象捕获技术（Hi-C 数据集）的公共数据集的 1055 个嵌合断点的独特信息。它还包括作为潜在药物靶标的基因融合的扩展列表，以及 934 种细胞系的嵌合断点，将 ChiTaRS 8.0 定位为测试个性化癌症疗法的宝贵资源。通过对来自公共数据集以及患者血液和血浆样本的精选疾病特异性 RNA 测序数据进行文本挖掘，我们确定了新的嵌合体，特别是在口腔鳞状细胞癌和胶质母细胞瘤等疾病中，现在已被编入 ChiTaRS。因此，ChiTaRS 8.0 可作为一个增强的融合转录本存储库，根据液体活检结果，将对癌症和其他复杂疾病中嵌合体功能景观的见解纳入其中。