CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects.

ABSTRACT: CanvasDB is an infrastructure for management and analysis of genetic variants from massively parallel sequencing (MPS) projects. The system stores SNP and indel calls in a local database, designed to handle very large datasets, to allow for rapid analysis using simple commands in R. Functional annotations are included in the system, making it suitable for direct identification of disease-causing mutations in human exome- (WES) or whole-genome sequencing (WGS) projects. The system has a built-in filtering function implemented to simultaneously take into account variant calls from all individual samples. This enables advanced comparative analysis of variant distribution between groups of samples, including detection of candidate causative mutations within family structures and genome-wide as

SUBMITTER: Ameur A 

PROVIDER: S-EPMC4184106 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature