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Computational approaches to identify functional genetic variants in cancer genomes.

Abel Gonzalez-PerezVille MustonenBoris RevaGraham R S RitchiePau CreixellRachel KarchinMiguel VazquezJ Lynn FinkKarin S KassahnJohn V PearsonGary D BaderPaul C BoutrosLakshmi MuthuswamyB F Francis OuelletteJüri ReimandRune LindingTatsuhiro ShibataAlfonso ValenciaAdam ButlerSerge DronovPaul FlicekNick B ShannonHannah CarterLi DingChris SanderJosh M StuartLincoln D SteinNuria Lopez-Bigasnull null
Published in: Nature methods (2013)
The International Cancer Genome Consortium (ICGC) aims to catalog genomic abnormalities in tumors from 50 different cancer types. Genome sequencing reveals hundreds to thousands of somatic mutations in each tumor but only a minority of these drive tumor progression. We present the result of discussions within the ICGC on how to address the challenge of identifying mutations that contribute to oncogenesis, tumor maintenance or response to therapy, and recommend computational techniques to annotate somatic variants and predict their impact on cancer phenotype.
Keyphrases
  • papillary thyroid
  • squamous cell
  • copy number
  • stem cells
  • squamous cell carcinoma
  • lymph node metastasis
  • childhood cancer
  • dna methylation
  • young adults