Biological Interpretation of Complex Genomic Data

  • Kathleen M. FischEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 1908)


Tumor genomic profiling involves analyzing many data types to produce a molecular profile of a tumor. Many of these analyses result in a prioritized list of genes or variants for further study. Interpretation of these lists relies upon annotating and extracting biological meaning through literature and manually curated knowledge bases. This chapter will describe several of these approaches including gene annotation, variant annotation, clinical annotation, functional enrichment analyses, and network analyses. Taken together or individually, these analyses will result in a biological understanding of complex genomic data to improve clinical decision making.

Key words

Computational biology Bioinformatics Variant annotation Pathway analysis Network analysis Functional enrichment Genomic interpretation 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Medicine, Center for Computational Biology and BioinformaticsUniversity of California San DiegoLa JollaUSA

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