It is a technology that enables the sequencing of all RNA molecules expressed within a cell at a given moment and allows for quantitative comparisons based on specified parameters. Compared to data obtained from DNA sequencing, RNA-based studies provide insights into the dynamic structure of the cell and its biological processes. RNA sequencing has now become an integral part of routine studies and research.
Some of these applications include:
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Elucidation of disease mechanisms
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Identification of new drug targets
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Detection of diagnostic and prognostic biomarkers
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Determination of the functional effects of variants detected in DNA
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Identification of alternative transcripts
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Detection of fusion/translocation products
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Identification of RNA variants
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Analysis of non-coding RNAs
It has especially become routine in the diagnosis, treatment, and prognosis monitoring of leukemia and lymphoma. In routine studies on leukemia and lymphoma, most work is performed using FISH and real-time methods, focusing on specific fusions, deletions, and duplications. In other words, only selected target regions are examined. Parameters assessed by FISH and real-time methods are chosen based on their impact on diagnosis and prognosis. However, with RNA sequencing, in addition to detecting known impactful fusions, it becomes possible to identify new immunotherapy candidate genes and variants of genes that may influence prognosis and monitoring. All fusions, intragenic inversions, duplications, and gene expression levels can be analyzed using this method. Therefore, RNA sequencing yields highly successful results, particularly in cases where a clear diagnosis cannot be established, the disease follows an unexpected course, there is no response to treatment, or complications arise during treatment.
RNA sequencing detects copy number variations such as deletions/duplications and fusion anomalies, as well as the functional effects of these anomalies—which are frequently seen in leukemias. Moreover, when performed alongside exome sequencing, it enables the identification of familial leukemias and cancers, and it offers substantial potential for detecting nearly all variants associated with leukemia—including polysomies—together with their functional impacts.