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Advances in understanding cancer genomes through second-generation sequencing | Nature Reviews Genetics
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Cancer is fundamentally a disease of the genome and so high-throughput sequencing technologies offer great potential for improving our understanding of the biology and treatment of cancer. Experimental strategies, computational approaches and cancer-specific considerations for detecting different types of genomic alterations are discussed. Cancers are caused by the accumulation of genomic alterations. Therefore, analyses of cancer genome sequences and structures provide insights for understanding cancer biology, diagnosis and therapy. The application of second-generation DNA sequencing technologies (also known as next-generation sequencing) β through whole-genome, whole-exome and whole-transcriptome approaches β is allowing substantial advances in cancer genomics. These methods are facilitating an increase in the efficiency and resolution of detection of each of the principal types of somatic cancer genome alterations, including nucleotide substitutions, small insertions and deletions, copy number alterations, chromosomal rearrangements and microbial infections. This Review focuses on the methodological considerations for characterizing somatic genome alterations in cancer and the future prospects for these approaches.
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permissions reprints receives research support privacy policy nature portfolio advertising open label stacey gabrielΒ &Β gad getz formalin-fixed paraffin-embedded specimens social media cancer-specific high-throughput annotation author information authors development paired-end short reads library-free resequencing paired-end transcriptome sequencing short color-space reads author correspondence drug-sensitive fgfr2 mutations short sequence-derived tags snvmix samtools varscan pindel soap2 shrimp bfast circos sequence alignment/map format k-ras mutation analysis array cgh data small-cell lung cancer genome amplification-induced bias somatic copy-number alteration springerlink instant access permissions jumping library library construction sequence-based computational subtraction circulating lung-cancer cells acute lymphoblastic leukaemia paraffin-embedded tissues national cancer institute including nucleotide substitutions single cancer type accurate long-read alignment human glioblastoma multiforme massively parallel sequencing detect break points global genomic analyses pattern growth approach
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Cancer is fundamentally a disease of the genome and so high-throughput sequencing technologies offer great potential for improving our understanding of the biology and treatment of cancer. Experimental strategies, computational approaches and cancer-specific considerations for detecting different types of genomic alterations are discussed. Cancers are caused by the accumulation of genomic alterations. Therefore, analyses of cancer genome sequences and structures provide insights for understanding cancer biology, diagnosis and therapy. The application of second-generation DNA sequencing technologies (also known as next-generation sequencing) Γ’ΒΒ through whole-genome, whole-exome and whole-transcriptome approaches Γ’ΒΒ is allowing substantial advances in cancer genomics. These methods are facilitating an increase in the efficiency and resolution of detection of each of the principal types of somatic cancer genome alterations, including nucleotide substitutions, small insertions and deletions, copy number alterations, chromosomal rearrangements and microbial infections. This Review focuses on the methodological considerations for characterizing somatic genome alterations in cancer and the future prospects for these approaches.
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