HiTea: a computational pipeline to identify non-reference transposable element insertions in Hi-C data

Author:

Jain Dhawal1,Chu Chong1,Alver Burak Han1ORCID,Lee Soohyun1,Lee Eunjung Alice23,Park Peter J1ORCID

Affiliation:

1. Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA

2. Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA

3. Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA

Abstract

ABSTRACT Hi-C is a common technique for assessing 3D chromatin conformation. Recent studies have shown that long-range interaction information in Hi-C data can be used to generate chromosome-length genome assemblies and identify large-scale structural variations. Here, we demonstrate the use of Hi-C data in detecting mobile transposable element (TE) insertions genome-wide. Our pipeline Hi-C-based TE analyzer (HiTea) capitalizes on clipped Hi-C reads and is aided by a high proportion of discordant read pairs in Hi-C data to detect insertions of three major families of active human TEs. Despite the uneven genome coverage in Hi-C data, HiTea is competitive with the existing callers based on whole-genome sequencing (WGS) data and can supplement the WGS-based characterization of the TE-insertion landscape. We employ the pipeline to identify TE-insertions from human cell-line Hi-C samples. Availability and implementation HiTea is available at https://github.com/parklab/HiTea and as a Docker image. Supplementary information Supplementary data are available at Bioinformatics online.

Funder

National Institutes of Health

National Institute of Mental Health

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

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