Comprehensive Cancer Genomic Analysis
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Corresponding Organization :
Other organizations : Broad Institute, National Institute of Environmental Health Sciences, Dana-Farber Cancer Institute, National Institute of Genomic Medicine, Hospital Sant Joan de Déu Barcelona, Children's Hospital of Philadelphia, Harvard University, Massachusetts General Hospital
Protocol cited in 593 other protocols
Variable analysis
- Whole-exome capture library construction
- Whole-genome sequencing
- Somatic single-nucleotide variants (SSNVs)
- Short somatic insertions and deletions
- Mutation spectra
- Significantly mutated genes
- Institutional IRB approval
- Documented informed consent
- Alignment to reference human genome build hg19
- Use of Burrows-Wheeler Aligner
- Picard pipeline for BAM file production
- Firehose pipeline for input/output file management and analysis
- MuTect and Indelocator algorithms for variant identification
- Non-negative matrix factorization (NMF) for mutation spectrum analysis
- MutSigCV for identifying significantly mutated genes
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