Library adaptors with integrated reference controls improve the accuracy and reliability of nanopore sequencing.


Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
28 10 2022
Historique:
received: 03 12 2021
accepted: 11 10 2022
pubmed: 29 10 2022
medline: 2 11 2022
entrez: 28 10 2022
Statut: epublish

Résumé

Library adaptors are short oligonucleotides that are attached to RNA and DNA samples in preparation for next-generation sequencing (NGS). Adaptors can also include additional functional elements, such as sample indexes and unique molecular identifiers, to improve library analysis. Here, we describe Control Library Adaptors, termed CAPTORs, that measure the accuracy and reliability of NGS. CAPTORs can be integrated within the library preparation of RNA and DNA samples, and their encoded information is retrieved during sequencing. We show how CAPTORs can measure the accuracy of nanopore sequencing, evaluate the quantitative performance of metagenomic and RNA sequencing, and improve normalisation between samples. CAPTORs can also be customised for clinical diagnoses, correcting systematic sequencing errors and improving the diagnosis of pathogenic BRCA1/2 variants in breast cancer. CAPTORs are a simple and effective method to increase the accuracy and reliability of NGS, enabling comparisons between samples, reagents and laboratories, and supporting the use of nanopore sequencing for clinical diagnosis.

Identifiants

pubmed: 36307482
doi: 10.1038/s41467-022-34028-8
pii: 10.1038/s41467-022-34028-8
pmc: PMC9616880
doi:

Substances chimiques

RNA 63231-63-0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

6437

Informations de copyright

© 2022. The Author(s).

Références

Clin Biochem Rev. 2008 Aug;29 Suppl 1:S49-52
pubmed: 18852857
Genome Biol. 2020 May 6;21(1):106
pubmed: 32375897
Nat Biotechnol. 2021 Apr;39(4):442-450
pubmed: 33257864
Nat Commun. 2020 Jul 17;11(1):3609
pubmed: 32681090
Nat Rev Genet. 2017 Aug;18(8):473-484
pubmed: 28626224
PLoS One. 2019 Oct 31;14(10):e0224578
pubmed: 31671154
BMC Bioinformatics. 2018 Nov 14;19(1):423
pubmed: 30428853
NAR Genom Bioinform. 2020 Aug 18;2(3):lqaa059
pubmed: 33575610
Bioinformatics. 2010 Jan 1;26(1):139-40
pubmed: 19910308
BMC Genomics. 2004 Mar 09;5(1):20
pubmed: 15113400
Bioinformatics. 2011 Jun 15;27(12):1691-2
pubmed: 21493652
Nat Genet. 1996 Mar;12(3):333-7
pubmed: 8589730
Sci Data. 2016 Jun 07;3:160025
pubmed: 27271295
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
BMC Bioinformatics. 2011 Jul 19;12:290
pubmed: 21771300
Nat Methods. 2014 Feb;11(2):163-6
pubmed: 24363023
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947
pubmed: 30371878
BMC Genomics. 2018 Jan 8;19(1):30
pubmed: 29310587
PLoS One. 2012;7(7):e41356
pubmed: 22859977
Genome Biol. 2021 Mar 31;22(1):95
pubmed: 33789731
BMC Bioinformatics. 2010 Mar 15;11:129
pubmed: 20230624
J Cancer. 2019 May 14;10(9):2109-2127
pubmed: 31205572
BMC Genomics. 2006 Mar 21;7:59
pubmed: 16551369
BMC Bioinformatics. 2010 Feb 18;11:94
pubmed: 20167110
Cold Spring Harb Protoc. 2010 Jun;2010(6):pdb.prot5448
pubmed: 20516186
Nat Methods. 2016 Sep;13(9):792-8
pubmed: 27502218
Microbiome. 2014 Feb 24;2(1):6
pubmed: 24558975
Bioinformatics. 2018 Sep 1;34(17):i884-i890
pubmed: 30423086
Genome Res. 2017 May;27(5):737-746
pubmed: 28100585
Ann Oncol. 2020 Nov;31(11):1491-1505
pubmed: 32853681
Int J Mol Sci. 2021 Jun 12;22(12):
pubmed: 34204756
Genome Biol. 2010;11(3):R25
pubmed: 20196867
Mol Cell Biol. 2015 Dec 28;36(5):662-7
pubmed: 26711261
BMC Genomics. 2020 Dec 21;21(Suppl 6):889
pubmed: 33349243
Nat Biotechnol. 2020 Sep;38(9):1044-1053
pubmed: 32686750
Genome Biol. 2010;11(10):R106
pubmed: 20979621
Biotechniques. 2017 Nov 1;63(5):221-226
pubmed: 29185922
BMC Genomics. 2016 Oct 20;17(1):814
pubmed: 27765019
Nucleic Acids Res. 2017 Feb 28;45(4):e23
pubmed: 27980100
Genes (Basel). 2020 Apr 01;11(4):
pubmed: 32244632
Genome Biol. 2015 Sep 30;16:204
pubmed: 26420219
Nat Commun. 2018 Aug 6;9(1):3096
pubmed: 30082706
Nat Biotechnol. 2019 May;37(5):561-566
pubmed: 30936564
Nat Genet. 1994 Dec;8(4):387-91
pubmed: 7894491
Genome Res. 2011 Sep;21(9):1543-51
pubmed: 21816910
F1000Res. 2017 Feb 3;6:100
pubmed: 28868132
Nat Biotechnol. 2021 Sep;39(9):1129-1140
pubmed: 34504351
Bioinformatics. 2018 Sep 15;34(18):3094-3100
pubmed: 29750242
J Biomol Tech. 2016 Dec;27(4):125-128
pubmed: 27672352
Nat Biotechnol. 2014 Sep;32(9):896-902
pubmed: 25150836
Nat Protoc. 2019 Jul;14(7):2119-2151
pubmed: 31217595

Auteurs

Helen M Gunter (HM)

Australian Institute of Bioengineering and Nanotechnology, University of Queensland, Brisbane, QLD, Australia.

Scott E Youlten (SE)

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

Bindu Swapna Madala (BS)

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

Andre L M Reis (ALM)

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

Igor Stevanovski (I)

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

Ted Wong (T)

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

Sarah K Kummerfield (SK)

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.

Ira W Deveson (IW)

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.

Nadia S Santini (NS)

Programa Investigadoras e Investigadores por México, Instituto de Ecología, Universidad Nacional Autónoma de México, Mexico City, Mexico.

Esteban Marcellin (E)

Australian Institute of Bioengineering and Nanotechnology, University of Queensland, Brisbane, QLD, Australia.

Tim R Mercer (TR)

Australian Institute of Bioengineering and Nanotechnology, University of Queensland, Brisbane, QLD, Australia. t.mercer@uq.edu.au.
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. t.mercer@uq.edu.au.

Articles similaires

Genome, Chloroplast Phylogeny Genetic Markers Base Composition High-Throughput Nucleotide Sequencing
Humans Middle Aged Female Male Surveys and Questionnaires

Classifications MeSH