Article
Sequana coverage: detection and characterization of genomic variations using running median and mixture models.
GigaScience - 1 Dec 2018
Desvillechabrol Dimitri, Bouchier Christiane, Kennedy Sean, Cokelaer Thomas
Abstract excerpt
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...
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