Sequana coverage: detection and characterization of genomic variations using running median and mixture models.

ABSTRACT:

Background

In addition to mapping quality information, the Genome coverage contains valuable biological information such as the presence of repetitive regions, deleted genes, or copy number variations (CNVs). It is essential to take into consideration atypical regions, trends (e.g., origin of replication), or known and unknown biases that influence coverage. It is also important that reported events have robust statistics (e.g. z-score) associated with their detections as well as precise location.

Results

We provide a stand-alone application, sequana_coverage, that reports genomic regions of interest (ROIs) that are significantly over- or underrepresented in high-throughput sequencing data. Significance is associated with the events as well as characteristics such as length

SUBMITTER: Desvillechabrol D 

PROVIDER: S-EPMC6275460 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature