A pipeline for identifying integration sites of mobile elements in the genome using next-generation sequencing

Raunaq Malhotra, Daniel Elleder, Le Bao, David R. Hunter, Mary Poss, Raj Acharya

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1 Scopus citations

Abstract

Next Generation Sequencing (NGS) reads obtained by sequencing of the junction of a mobile element and the host flanking region from individuals in a population are typically mapped to a reference genome to determine the location of the mobile element-host junction. We propose a clustering pipeline for grouping such NGS data into clusters corresponding to the locations of integration sites in the genome. Our pipeline relies on the UCLUST clustering software, which clusters reads into groups using a clustering threshold, to cluster the integration sites NGS reads into groups based on their site of origin. An optimal clustering threshold is chosen based on a proposed clustering measure, I - index. We evaluate our pipeline on simulated integration sites data from the human genome and compare its performance to UCLUST clustering. Our pipeline is more accurate in recovering both the number and the correct sequence of the integration sites when compared to the other method. This pipeline can be beneficial in detecting the mobile element-host junctions in a population for species with no reference genome.

Original languageEnglish (US)
Title of host publicationProceedings of the 8th International Conference on Bioinformatics and Computational Biology, BICOB 2016
EditorsNurit Haspel, Thomas Ioerger
PublisherThe International Society for Computers and Their Applications (ISCA)
Pages63-68
Number of pages6
ISBN (Electronic)9781943436033
StatePublished - 2016
Event8th International Conference on Bioinformatics and Computational Biology, BICOB 2016 - Las Vegas, United States
Duration: Apr 4 2016Apr 6 2016

Publication series

NameProceedings of the 8th International Conference on Bioinformatics and Computational Biology, BICOB 2016

Other

Other8th International Conference on Bioinformatics and Computational Biology, BICOB 2016
Country/TerritoryUnited States
CityLas Vegas
Period4/4/164/6/16

All Science Journal Classification (ASJC) codes

  • Artificial Intelligence
  • Computational Theory and Mathematics
  • Information Systems
  • Biomedical Engineering
  • Electrical and Electronic Engineering
  • Health Informatics

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