Evidence map›Paper›PMID 35428171›Full record

ArticleBMC bioinformatics2022

BreakAlign: a Perl program to align chimaeric (split) genomic NGS reads and allow visual confirmation of novel retroviral integrations.

Emanuele Marchi, Mathew Jones, Paul Klenerman, John Frater, Gkikas Magiorkinis, Robert Belshaw

Abstract read
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Article in BMC bioinformatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Emanuele MarchiNuffield Department of Medicine, University of Oxford, Oxford, UK. emanuele.marchi@ndm.ox.ac.uk.
Mathew JonesNuffield Department of Medicine, University of Oxford, Oxford, UK.
Paul KlenermanNuffield Department of Medicine, University of Oxford, Oxford, UK.
John FraterNuffield Department of Medicine, University of Oxford, Oxford, UK.
Gkikas MagiorkinisDepartment of Hygiene, Epidemiology and Medical Statistics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Robert BelshawDepartment of Biology, College of Science and Technology, Wenzhou-Kean University, Wenzhou, Zhejiang Province, China. rbelshaw@kean.edu.ORCID http://orcid.org/0000-0001-6234-3947

Funding

Medical Research Council MR/L006588/1Wellcome TrustWellcome Trust WT086173Wellcome Trust WT109965MA
6 · The paper itself

Abstract

backgroundRetroviruses replicate by integrating a DNA copy into a host chromosome. Detecting novel retroviral integrations (ones not in the reference genome sequence of the host) from genomic NGS data is bioinformatically challenging and frequently produces many false positives. One common method of confirmation is visual inspection of an alignment of the chimaeric (split) reads that span a putative novel retroviral integration site. We perceived the need for a program that would facilitate this by producing a multiple alignment containing both the viral and host regions that flank an integration.

resultsBreakAlign is a Perl program that uses blastn to produce such a multiple alignment. In addition to the NGS dataset and a reference viral sequence, the program requires either (a) the ~ 500nt host genome sequence that spans the putative integration or (b) coordinates of this putative integration in an installed copy of the reference human genome (multiple integrations can be processed automatically). BreakAlign is freely available from https://github.com/marchiem/breakalign and is accompanied by example files allowing a test run.

conclusionBreakAlign will confirm and facilitate characterisation of both (a) germline integrations of endogenous retroviruses and (b) somatic integrations of exogenous retroviruses such as HIV and HTLV. Although developed for use with genomic short-read NGS (second generation) data and retroviruses, it should also be useful for long-read (third generation) data and any mobile element with at least one conserved flanking region.

Indexed as

GenomicsRetroviridaeGenome, HumanHumansVirus IntegrationDetectionInsertionIntegrationNGSProvirusRetrovirus

Identifiers

PMID35428171
PMCPMC9013057

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.