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

ABSTRACT: Somatic mutations promote the transformation of normal cells to cancer. Accurate identification of such mutations facilitates cancer diagnosis and treatment, but biological and technological noises, including intra-tumor heterogeneity, sample contamination, uncertainties in base sequencing and read alignment, pose a big challenge to somatic mutation discovery. A number of callers have been developed to predict them from paired tumor/normal or unpaired tumor sequencing data. However, the small size of currently available experimentally validated somatic sites limits evaluation and then improvement of callers. Fortunately, NIST reference material NA12878 genome has been well-characterized with publicly available high-confidence genotype calls, and biological and technological noises can be c

SUBMITTER: Meng J 

PROVIDER: S-EPMC6116990 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature