Unraveling the genetics of cancer: Genome sequencing and beyond

Kit Man Wong, Thomas J. Hudson, John Douglas Mcpherson

Research output: Contribution to journalArticlepeer-review

75 Scopus citations


Advances in next-generation sequencing technology are enabling the systematic analyses of whole cancer genomes, providing insights into the landscape of somatic mutations and the great genetic heterogeneity that defines the unique signature of an individual tumor. Moreover, integrated studies of the genome, epigenome, and transcriptome reveal mechanisms of tumorigenesis at multiple levels. Progress in sequencing technologies and bioinformatics will improve the costs, sensitivity, and accuracy of detecting somatic mutations, while large-scale projects are underway to coordinate cancer genome sequencing at the global level to facilitate the generation and dissemination of high-quality uniform genetic data. These developments will create opportunities for deeper studies of cancer genetics and the clinical application of genome sequencing, and will motivate further research in cancer pathogenesis.

Original languageEnglish (US)
Pages (from-to)407-430
Number of pages24
JournalAnnual Review of Genomics and Human Genetics
StatePublished - Jul 13 2011
Externally publishedYes


  • Bioinformatics
  • Epigenome
  • Next-generation sequencing
  • Somatic mutation
  • Transcriptome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Molecular Biology


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