期刊
NATURE PROTOCOLS
卷 13, 期 11, 页码 2580-2600出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41596-018-0052-3
关键词
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资金
- Biomedicum Helsinki Foundation
- Cancer Society of Finland
- Emil Aaltonen Foundation
- Juhani Aho Foundation for Medical Research
- Sigrid Juselius Foundation
- Academy of Finland (Finnish Center of Excellence Program 2012-2017) [250345]
- European Research Council (ERC) [268648]
- European Union Framework Programme 7 Collaborative Project [258236]
- Nordic Information for Action eScience Center (NIASC)
- Nordic Center of Excellence grant - NordForsk [62721]
- European Research Council (ERC) [268648] Funding Source: European Research Council (ERC)
Next-generation sequencing (NGS) is routinely applied in life sciences and clinical practice, but interpretation of the massive quantities of genomic data produced has become a critical challenge. The genome-wide mutation analyses enabled by NGS have had a revolutionary impact in revealing the predisposing and driving DNA alterations behind a multitude of disorders. The workflow to identify causative mutations from NGS data, for example in cancer and rare diseases, commonly involves phases such as quality filtering, case-control comparison, genome annotation, and visual validation, which require multiple processing steps and usage of various tools and scripts. To this end, we have introduced an interactive and user-friendly multi-platform-compatible software, BasePlayer, which allows scientists, regardless of bioinformatics training, to carry out variant analysis in disease genetics settings. A genome-wide scan of regulatory regions for mutation clusters can be carried out with a desktop computer in -10 min with a dataset of 3 million somatic variants in 200 whole-genome-sequenced (WGS) cancers.
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