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Yale J Biol Med. 2011 Dec;84(4):439-46.

Methods, challenges, and promise of next-generation sequencing in cancer biology.

Author information

1
Yale School of Medicine, New Haven, Connecticut 06510, USA. adrian.haimovich@yale.edu

Abstract

It is generally accepted that cancers result from the aggregation of somatic mutations. The emergence of next-generation sequencing (NGS) technologies during the past half-decade has enabled studies of cancer genomes with high sensitivity and resolution through whole-genome and whole-exome sequencing approaches, among others. This saltatory advance introduces the possibility of assembling multiple cancer genomes for analysis in a cost-effective manner. Analytical approaches are now applied to the detection of a number of somatic genome alterations, including nucleotide substitutions, insertions/deletions, copy number variations, and chromosomal rearrangements. This review provides a thorough introduction to the cancer genomics pipeline as well as a case study of these methods put into practice.

KEYWORDS:

cancer; computation; genomics; sequencing

PMID:
22180681
PMCID:
PMC3238319
[Indexed for MEDLINE]
Free PMC Article
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