Computational cancer genomics

Aman Chandra Kaushik, Shakti Sahi

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Cancer is a complex genetic disease primarily caused by somatic mutations in the genome. Somatic mutations have a pivotal role in the initiation and development of tumor growth. The advent of newer and advanced next-generation sequencing technologies has revolutionized cancer genomics research. It has facilitated genomic analysis of multiple samples in a short time span, thus enabling analysis of large sequencing omics data. However, the sequencing and assembly procedures introduce several errors and artifacts. The computational approaches are becoming increasingly significant for the systematic detection of somatic mutations and in reducing the false positive and false negative mutations. This review focuses on the computational techniques in cancer genomics, specifically databases, methods, and tools for detecting cancer driver genes. The methods for the detection of germline and somatic mutations, noncoding mutations, structural variants, and variant annotations are discussed. As specific biological pathways are capable of complicated rewiring between conditions, methods involving pathway analysis and network-based analyses prove to be useful in cancer prognosis. Methods are developed to predict drug combinations for targeted therapy. The emergence of mutation-specific drugs will lead to precision medicine according to the mutational profile of an individual. This chapter highlights the recent advancements in computational cancer genomics along with challenges and strategies used to gain an in-depth understanding of cancer biology of different types of tumors.

Original languageEnglish
Title of host publicationChemoinformatics and Bioinformatics in the Pharmaceutical Sciences
Number of pages31
ISBN (Electronic)9780128217481
StatePublished - 1 Jan 2021
Externally publishedYes


  • Cancer biology
  • Computational cancer genomics
  • Genome
  • Mutational analysis
  • Structural variations

ASJC Scopus subject areas

  • Economics, Econometrics and Finance (all)
  • General Business, Management and Accounting


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