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Utility of the JAX Clinical Knowledgebase in capture and assessment of complex genomic cancer data
npj Precision Oncology ( IF 7.9 ) Pub Date : 2019-01-15 , DOI: 10.1038/s41698-018-0073-y
Sara E. Patterson , Cara M. Statz , Taofei Yin , Susan M. Mockus

Cancer genomic data is continually growing in complexity, necessitating improved methods for data capture and analysis. Tumors often contain multiple therapeutically relevant alterations, and co-occurring alterations may have a different influence on therapeutic response compared to if those alterations were present alone. One clinically important example of this is the existence of a resistance conferring alteration in combination with a therapeutic sensitizing mutation. The JAX Clinical Knowledgebase (JAX-CKB) (https://ckb.jax.org/) has incorporated the concept of the complex molecular profile, which enables association of therapeutic efficacy data with multiple genomic alterations simultaneously. This provides a mechanism for rapid and accurate assessment of complex cancer-related data, potentially aiding in streamlined clinical decision making. Using the JAX-CKB, we demonstrate the utility of associating data with complex profiles comprising ALK fusions with another variant, which have differing impacts on sensitivity to various ALK inhibitors depending on context.



中文翻译:

JAX Clinical Knowledgebase在捕获和评估复杂基因组癌症数据中的实用性

癌症基因组数据的复杂性不断增长,因此需要改进的方法来进行数据捕获和分析。肿瘤通常包含多种与治疗有关的改变,与单独存在的改变相比,同时发生的改变对治疗反应的影响可能不同。一个临床上重要的例子是存在与治疗敏化突变相结合的赋予抗性的改变。JAX临床知识库(JAX-CKB)(https://ckb.jax.org/)引入了复杂分子谱的概念,该谱使得能够同时将疗效数据与多个基因组改变关联起来。这提供了一种快速而准确地评估与癌症相关的复杂数据的机制,可能有助于简化临床决策。

更新日期:2019-01-15
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