Whole Exome Sequencing of Tumor and Normal Samples
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Corresponding Organization : Memorial Sloan Kettering Cancer Center
Other organizations : National Cancer Center, Icahn School of Medicine at Mount Sinai, Seoul National University Bundang Hospital, Howard University, Meharry Medical College
Variable analysis
- Tumor specimens
- Peripheral blood leukocytes
- Somatic single nucleotide variants (SNVs) in whole-exome sequencing data
- Genomic DNA samples constructed into Illumina paired-end precapture libraries and prepared using protocols recommended by Illumina
- Captured DNA libraries sequenced with the Illumina HiSeq 2000 Genome Analyzer to an average coverage of 144X, yielding 150 (2 × 75) base pairs from the final library fragments
- Reads aligned to the hg19 (GRCh37) build using the Burrows-Wheeler Aligner (BWA)
- Genome Analysis Toolkit (GATK) used for base quality score recalibration, indel realignment, and duplicate read removal
- MuTect algorithm used to identify somatic single nucleotide variants (SNVs) in whole-exome sequencing data
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