IMGEins: detecting novel mobile genetic elements inserted in individual genomes.

ABSTRACT:

Background

Recent advances in sequencing technology have allowed us to investigate personal genomes to find structural variations, which have been studied extensively to identify their association with the physiology of diseases such as cancer. In particular, mobile genetic elements (MGEs) are one of the major constituents of the human genomes, and cause genome instability by insertion, mutation, and rearrangement.

Result

We have developed a new program, iMGEins, to identify such novel MGEs by using sequencing reads of individual genomes, and to explore the breakpoints with the supporting reads and MGEs detected. iMGEins is the first MGE detection program that integrates three algorithmic components: discordant read-pair mapping, split-read mapping, and insertion sequence as

SUBMITTER: Bae J 

PROVIDER: S-EPMC6299635 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature