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Published on: December 26, 2016
Utility of the JAX Clinical Knowledgebase in capture and assessment of complex genomic cancer data
Sara E Patterson1, Cara M Statz1, Taofei Yin1
1The Jackson Laboratory for Genomic Medicine, Farmington, CT USA.
Abstract:
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.
Insights
Cancer genomic data complexity requires advanced analysis. The JAX Clinical Knowledgebase (JAX-CKB) now links therapeutic efficacy to complex molecular profiles, improving cancer treatment decisions.
Area of Science:
- Oncology
- Genomics
- Bioinformatics
Background:
- Cancer research generates vast and complex genomic data.
- Tumor alterations can co-occur, influencing therapeutic response.
- Understanding these complex profiles is crucial for effective cancer treatment.
Purpose of the Study:
- To introduce and validate the JAX Clinical Knowledgebase's (JAX-CKB) capability for analyzing complex molecular profiles.
- To demonstrate how JAX-CKB associates therapeutic efficacy with multiple genomic alterations simultaneously.
- To highlight the potential for streamlined clinical decision-making in oncology.
Main Methods:
- Incorporation of complex molecular profiles into the JAX-CKB.
- Association of therapeutic efficacy data with multiple genomic alterations.
- Case study analysis of ALK fusions with other variants and their impact on ALK inhibitor sensitivity.
Main Results:
- JAX-CKB successfully enables the association of therapeutic data with complex genomic profiles.
- Demonstrated context-dependent impact of co-occurring alterations on drug sensitivity.
- Validated the utility of JAX-CKB for assessing complex cancer-related data.
Conclusions:
- The JAX-CKB provides a robust platform for analyzing complex cancer genomic data.
- This approach facilitates a more accurate assessment of therapeutic response in the presence of multiple alterations.
- JAX-CKB can aid in personalized medicine by informing clinical decisions based on intricate molecular profiles.
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