Abstract
The past two decades have seen unprecedented advances in the field of oncogenomics. The ongoing characterization of neoplastic tissues through genomic techniques has transformed many aspects of cancer research, diagnosis, and treatment. However, identifying sequence variants with biological and clinical significance is a challenging endeavor. In order to accomplish this task, variants must be annotated and interpreted using various online resources. Data on protein structure, functional prediction, variant frequency in relevant populations, and multiple other factors have been compiled in useful databases for this purpose. Thus, understanding the available online resources for the annotation and interpretation of sequence variants is critical to aid molecular pathologists and researchers working in this space.
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Joshi, R.P., Steiner, D.F., Konnick, E.Q., Suarez, C.J. (2019). Pharma-Oncogenomics in the Era of Personal Genomics: A Quick Guide to Online Resources and Tools. In: Ruiz-Garcia, E., Astudillo-de la Vega, H. (eds) Translational Research and Onco-Omics Applications in the Era of Cancer Personal Genomics. Advances in Experimental Medicine and Biology, vol 1168. Springer, Cham. https://doi.org/10.1007/978-3-030-24100-1_7
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DOI: https://doi.org/10.1007/978-3-030-24100-1_7
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