An Introduction to Resources Facilitating Cancer Variant Interpretation



Many genomic databases and knowledgebases are available and useful in determining the significance of genetic alterations in cancer. Each one of these resources has unique features that allow the user to answer specific questions about the gene, variant, or alteration in question. In this introduction to resources facilitating cancer variant interpretation, we will review different features of several resources (including COSMIC, cBioPortal, OncoKB, CIViC, PeCan Data Portal, JAX-CKB, the Molecular Oncology Almanac, Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer, Mastermind by Genomenon, and the VICC MetaKB) that make these resources particularly helpful and unique. The goal of this review is to introduce the audience to the landscape of genomic resources available and encourage the use, familiarization, and collaboration with these databases and knowledgebases to ease the burden of interpreting genomic variants in cancer.  In addition to learning about the features incorporated into these resources, the landscape of integration of resources will be reviewed as this field continues to aggregate data and make meaningful connections to benefit the users of this technology.

Learning Objectives:

1. Identify different kinds of genomic resources

2. Learn to apply the features available in genomic resources to cancer variant interpretation

3. Describe the importance of collaboration and aggregation of genomic variant information

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