Pathology Portal

Introduction to cancer genomics and its caveats

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Overview: Cancer genomes contain a wide range of somatic variants – DNA differences between tumor cells and normal host cells. In addition, inherited germline variants may predispose to cancer. Researchers use DNA sequencing to discover somatic and germline variants, identify cancer driver mutations and infer clonal tumor architecture. In this lecture we will discuss the challenges of cancer genomics and the computational methods used to analyse cancer genomes.

Learning outcomes

By the end of this session you will be able to:

  • Describe methods of analysis for genomics datasets
  • Identify caveats for these analysis methods
  • Explain the concepts tumour purity, tumour heterogeneity, tumour ploidy and, somatic and germline mutations

Resource details

Contributed by: Pathology Portal
Authored by: Mahesh Prahladan, Pathology Portal
Licence: More information on licences
First contributed: 07 July 2024
Audience access level: General user

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