Tandem repeats lead to sequence assembly errors and impose multi-level challenges for genome and protein databases.


Journal

Nucleic acids research
ISSN: 1362-4962
Titre abrégé: Nucleic Acids Res
Pays: England
ID NLM: 0411011

Informations de publication

Date de publication:
02 12 2019
Historique:
accepted: 01 10 2019
revised: 03 09 2019
received: 07 06 2019
pubmed: 5 10 2019
medline: 12 5 2020
entrez: 5 10 2019
Statut: ppublish

Résumé

The widespread occurrence of repetitive stretches of DNA in genomes of organisms across the tree of life imposes fundamental challenges for sequencing, genome assembly, and automated annotation of genes and proteins. This multi-level problem can lead to errors in genome and protein databases that are often not recognized or acknowledged. As a consequence, end users working with sequences with repetitive regions are faced with 'ready-to-use' deposited data whose trustworthiness is difficult to determine, let alone to quantify. Here, we provide a review of the problems associated with tandem repeat sequences that originate from different stages during the sequencing-assembly-annotation-deposition workflow, and that may proliferate in public database repositories affecting all downstream analyses. As a case study, we provide examples of the Atlantic cod genome, whose sequencing and assembly were hindered by a particularly high prevalence of tandem repeats. We complement this case study with examples from other species, where mis-annotations and sequencing errors have propagated into protein databases. With this review, we aim to raise the awareness level within the community of database users, and alert scientists working in the underlying workflow of database creation that the data they omit or improperly assemble may well contain important biological information valuable to others.

Identifiants

pubmed: 31584084
pii: 5580909
doi: 10.1093/nar/gkz841
pmc: PMC6868369
doi:

Substances chimiques

DNA 9007-49-2

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

10994-11006

Informations de copyright

© The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research.

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Auteurs

Ole K Tørresen (OK)

Centre for Ecological and Evolutionary Synthesis, Department of Biosciences, University of Oslo, NO-0316 Oslo, Norway.

Bastiaan Star (B)

Centre for Ecological and Evolutionary Synthesis, Department of Biosciences, University of Oslo, NO-0316 Oslo, Norway.

Pablo Mier (P)

Faculty of Biology, Johannes Gutenberg University Mainz, Hans-Dieter-Husch-Weg 15, 55128 Mainz, Germany.

Miguel A Andrade-Navarro (MA)

Faculty of Biology, Johannes Gutenberg University Mainz, Hans-Dieter-Husch-Weg 15, 55128 Mainz, Germany.

Alex Bateman (A)

European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton. CB10 1SD, UK.

Patryk Jarnot (P)

Institute of Informatics, Silesian University of Technology, Akademicka 16, 44-100 Gliwice, Poland.

Aleksandra Gruca (A)

Institute of Informatics, Silesian University of Technology, Akademicka 16, 44-100 Gliwice, Poland.

Marcin Grynberg (M)

Institute of Biochemistry and Biophysics PAS, Pawińskiego 5A, 02-106 Warsaw, Poland.

Andrey V Kajava (AV)

Centre de Recherche en Biologie cellulaire de Montpellier, UMR 5237 CNRS, Universite Montpellier 1919 Route de Mende, CEDEX 5, 34293 Montpellier, France.
Institut de Biologie Computationnelle, 34095 Montpellier, France.

Vasilis J Promponas (VJ)

Bioinformatics Research Laboratory, Department of Biological Sciences, University of Cyprus, PO Box 20537, CY 1678 Nicosia, Cyprus.

Maria Anisimova (M)

Institute of Applied Simulations, School of Life Sciences and Facility Management, Zurich University of Applied Sciences (ZHAW), Wädenswil, Switzerland.
Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland.

Kjetill S Jakobsen (KS)

Centre for Ecological and Evolutionary Synthesis, Department of Biosciences, University of Oslo, NO-0316 Oslo, Norway.

Dirk Linke (D)

Section for Genetics and Evolutionary Biology, Department of Biosciences, University of Oslo, NO-0316 Oslo, Norway.

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