Evidence map›Paper›PMID 39501054›Full record

ArticleScientific reports2024

The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing.

Barbara Slapnik, Robert Šket, Klementina Črepinšek, Tine Tesovnik, Barbara Jenko Bizjan, Jernej Kovač

Abstract read
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Article
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  4. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Barbara SlapnikClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia.
Robert ŠketClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia.
Klementina ČrepinšekClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia.
Tine TesovnikClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia.
Barbara Jenko BizjanClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia.
Jernej KovačClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia. jernej.kovac@kclj.si.

Funding

Javna Agencija za Raziskovalno Dejavnost RS #56916Javna Agencija za Raziskovalno Dejavnost RS J3-50122
6 · The paper itself

Abstract

This study evaluates long-read and short-read sequencing for mitochondrial DNA (mtDNA) heteroplasmy detection. 592,315 bootstrapped datasets generated from two single-nucleotide mismatched ultra-deep sequenced mtDNA samples were used to assess basecalling error and accuracy, limit of heteroplasmy detection, and heteroplasmy detection across various coverage depths. Results showed high Phred scores of data with GC-rich sequence bias for long reads. Limit of detection of 12% heteroplasmy was identified, showing strong correlation (R

Indexed as

DNA, MitochondrialNanopore SequencingHeteroplasmyHigh-Throughput Nucleotide SequencingHumansLimit of DetectionMitochondriaMitochondrial DiseasesSequence Analysis, DNADNA, MitochondrialHeteroplasmyLong-read sequencingMitochondrial diseasemtDNA

Identifiers

PMID39501054
PMCPMC11538439

What OpenQuestion holds

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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.