simulated tumor genomes towards accurate detection of somatic small variants in cancer

This project is creating a dataset of over 100 simulated tumor genomes for public use. Specifically, BAMSurgeon is used to introduce small variants (SNVs and INDELs) into homozygous reference sites of high confidence of the well-characterized NA12878 human genome from previous work. Publicly available NA12878 WGS and exome data are pre-processed first and used as ''normal'' data. Researchers need these ''normal'' BAM files and simulated tumor files to tune or test somatic small variant callers.