Evidence map›Paper›PMID 41653029›Full record

ArticleAnnals of clinical and translational neurology2026

Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.

André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A Gustafson, Danny E Miller, Kensuke Daida and 8 more

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In one paragraph

Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

18 authors.

André FienemannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID https://orcid.org/0009-0004-9594-3673
Theresa LüthInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID https://orcid.org/0000-0003-0458-0498
Susen SchaakeInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Carolin GabbertInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID https://orcid.org/0000-0002-2308-9330
Marius MöllerInstitute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Hauke BuschInstitute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Jonas A GustafsonDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington, USA.
Danny E MillerDivision of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington, USA.
Kensuke DaidaMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-9177-9587
Manabu FunayamaDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Nobutaka HattoriDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Samia Ben SassiDepartment of Neurology, National Institute of Neurology Mongi Ben Hmida, Tunis, Tunisia.
Faycel HentatiService de Neurologie, Institut National de Neurologie, Tunis, Tunisia.
Matthew J FarrerMcKnight Brain Institute, Department of Neurology, College of Medicine, University of Florida, Gainesville, Florida, USA.ORCID https://orcid.org/0000-0003-1159-5321
Kristian K UllrichDivision Scientific IT Group, Max Planck Institute for Evolutionary Biology, Plön, Germany.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Joanne TrinhInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Funding

Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) EXC 22167-390884018Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) TR 1714/4-1Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) TR 1714/7-1Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) TR 1714/8-1
6 · The paper itself

Abstract

objectiveLong-read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.

methodsUltra-high molecular weight DNA was derived from blood and fibroblast cultures of 19 patients with mostly early-onset Parkinson's disease, and used for Nanopore sequencing and optical genome mapping. The size distributions of deletions and insertions were compared, and variants were filtered for rare or potentially pathogenic variants in 134 known movement disorder genes.

resultsBoth methods identified SVs > 50 kb; however, optical mapping identified fewer structural variants (49,677) compared to Nanopore sequencing (94,400), but detected six times more in the range 50-80 kb. In general, it detected significantly larger deletions and insertions (p < 2.2 × 10

interpretationOptical mapping can be a powerful first-line method for detecting large structural variants, but it requires a high-resolution method to refine breakpoint positions. Despite certain limitations, Nanopore sequencing was highly capable of detecting large variants independently and allows for a highly complementary assessment and validation of structural variation in combination with optical mapping.

Indexed as

Chromosome MappingGenomic Structural VariationNanopore SequencingParkinson DiseaseFemaleHumansMaleMiddle Agednanopore long‐read sequencingoptical genome mappingParkinson's diseasestructural variants

Identifiers

PMID41653029
PMCPMC13358575

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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.