sideRETRO: a pipeline for identifying somatic and polymorphic insertions of processed pseudogenes or retrocopies

摘要

Motivation: Retrocopies or processed pseudogenes are gene copies resulting from mRNA retrotransposition. These gene duplicates can be fixed, somatically inserted or polymorphic in the genome. However, knowledge regarding unfixed retrocopies (retroCNVs) is still limited, and the development of computational tools for effectively identifying and genotyping them is an urgent need.