title: Methods, challenges, and promise of next-generation sequencing in cancer biology.
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.
authors.affiliation: Yale School of Medicine, New Haven, Connecticut 06510, USA. adrian.haimovich@yale.edu
authors.forename: Adrian D
authors.initials: AD
authors.lastname: Haimovich
mesh_terms: D016678:Genome / Q000235:genetics; D023281:Genomics / Q000639:trends; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009369:Neoplasms / Q000209:etiology / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000639:trends