Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs.

ABSTRACT:

Background

The field of cancer genomics has rapidly adopted next-generation sequencing (NGS) in order to study and characterize malignant tumors with unprecedented resolution. In particular for cancer, one is often trying to identify somatic mutations--changes specific to a tumor and not within an individual's germline. However, false positive and false negative detections often result from lack of sufficient variant evidence, contamination of the biopsy by stromal tissue, sequencing errors, and the erroneous classification of germline variation as tumor-specific.

Results

We have developed a generalized Bayesian analysis framework for matched tumor/normal samples with the purpose of identifying tumor-specific alterations such as single nucleotide mutations, small insertions/

SUBMITTER: Christoforides A 

PROVIDER: S-EPMC3751438 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature