Journal Article10.1038/NRG2841
Advances in understanding cancer genomes through second-generation sequencing
TL;DR: 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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Abstract: 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) — through whole-genome, whole-exome and whole-transcriptome approaches — 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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Citations
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Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies
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References
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TL;DR: A solution-based method for targeted DNA capture-sequencing that is directed to the complete human exome allows the discovery of greater than 95% of all expected heterozygous singe base variants and constitutes an effective tool for identifying rare coding alleles in large scale genomic studies.
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