Evidence map›Paper›PMID 38110828›Full record

ArticleJournal of applied genetics2024

The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.

Patrycja Daca-Roszak, Joanna Fiedorowicz, Maciej Jankowski, Marzanna Ciesielka, Grzegorz Teresiński, Beata Lipska-Zietkiewicz, Ewa Zietkiewicz, Tomasz Grzybowski, Katarzyna Skonieczna

Erratum issuedOpen access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of applied genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 39% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Patrycja Daca-RoszakInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Joanna FiedorowiczInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Maciej JankowskiDepartment of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
Marzanna CiesielkaChair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland.
Grzegorz TeresińskiChair and Department of Forensic Medicine, Medical University of Lublin, Lublin, Poland.
Beata Lipska-ZietkiewiczCentre for Rare Diseases, Medical University of Gdansk, Gdansk, Poland; Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
Ewa ZietkiewiczInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Tomasz GrzybowskiDepartment of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland.
Katarzyna SkoniecznaDepartment of Forensic Medicine, Faculty of Medicine, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland. katarzyna.skonieczna@cm.umk.pl.ORCID http://orcid.org/0000-0001-5788-9398
Institute of Human Genetics · PLGdańsk Medical University · PLMedical University of Lublin · PLNicolaus Copernicus University · PL

Funding

Narodowe Centrum Nauki 2017/25/B/NZ2/00519Uniwersytet Mikolaja Kopernika w Toruniu UMK Research University Excellence Initiative for the ForensOMICS group
6 · The paper itself

Abstract

Massively parallel sequencing (MPS) technology has become the gold standard in mitochondrial DNA research due to its high sensitivity in detecting mtDNA heteroplasmy, a prognostic marker in various medical applications. Various MPS technologies and platforms used for mtDNA analysis exist. Obtaining reliable and sensitive results requires deep and uniform coverage of the entire mtDNA sequence, which is heavily influenced by the choice of library preparation method and sequencing platform. Here, we present a comparison of the sequencing coverage and the ability to heteroplasmy detection using two library preparation protocols (Nextera XT DNA Library Preparation Kit and Nextera DNA Flex Library Preparation Kit) and two different (MiSeq FGx and ISeq 100) Illumina MPS platforms. Our study indicates that the Nextera DNA Flex Library protocol provides a more balanced coverage along the mitogenome and a reliable heteroplasmy detection with both MiSeq and iSeq Illumina MPS systems.

Indexed as

DNA, MitochondrialGene LibraryHeteroplasmyHigh-Throughput Nucleotide SequencingGenome, MitochondrialHumansSequence Analysis, DNADNA, MitochondrialHeteroplasmy detectionMPS library preparationmtDNANextera FlexNextera XT

Identifiers

PMID38110828
PMCPMC11310223
OpenAlexW4389915599

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.