Computational analysis of cancer genome sequencing data
Distilling biologically meaningful information from cancer genome sequencing data requires comprehensive identification of somatic alterations using rigorous computational methods. As the amount and complexity of sequencing data have increased, so has the number of tools for analysing them. Here, we...
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| Veröffentlicht in: | Nature reviews. Genetics 2022-05, Vol.23 (5), p.298-314 |
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| container_title | Nature reviews. Genetics |
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| creator | Cortés-Ciriano, Isidro Gulhan, Doga C. Lee, Jake June-Koo Melloni, Giorgio E. M. Park, Peter J. |
| description | Distilling biologically meaningful information from cancer genome sequencing data requires comprehensive identification of somatic alterations using rigorous computational methods. As the amount and complexity of sequencing data have increased, so has the number of tools for analysing them. Here, we describe the main steps involved in the bioinformatic analysis of cancer genomes, review key algorithmic developments and highlight popular tools and emerging technologies. These tools include those that identify point mutations, copy number alterations, structural variations and mutational signatures in cancer genomes. We also discuss issues in experimental design, the strengths and limitations of sequencing modalities and methodological challenges for the future.
In this Review the authors provide an overview of key algorithmic developments, popular tools and emerging technologies used in the bioinformatic analysis of genomes. They also describe how such analysis can identify point mutations, copy number alterations, structural variations and mutational signatures in cancer genomes. |
| doi_str_mv | 10.1038/s41576-021-00431-y |
| format | Article |
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| subjects | 631/114 631/114/794 692/699/67/68 692/699/67/69 Agriculture Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Cancer Cancer Research Chromosome Mapping Computational Biology Computer applications Copy number DNA Copy Number Variations Gene Function Genome, Human Genomes High-Throughput Nucleotide Sequencing Human Genetics Humans Mutation Neoplasms - genetics Review Article |
| title | Computational analysis of cancer genome sequencing data |
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