Evidence map›Paper›PMID 39108517›Full record

ArticlemedRxiv : the preprint server for health sciences2024

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.

Kensuke Daida, Hiroyo Yoshino, Laksh Malik, Breeana Baker, Mayu Ishiguro, Rylee Genner, Kimberly Paquette, Yuanzhe Li, Kenya Nishioka, Satoshi Masuzugawa and 7 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Kensuke DaidaIntegrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9177-9587
Hiroyo YoshinoResearch Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Laksh MalikCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Breeana BakerCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Mayu IshiguroDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Rylee GennerCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Kimberly PaquetteCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Yuanzhe LiDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Kenya NishiokaDepartment of Neurology, Juntendo Tokyo Koto Geriatric Medical Center, Koto-ku, Tokyo, Japan.
Satoshi MasuzugawaMasuzugawa Neurology Clinic, Suzuka, Mie, Japan.
Makito HiranoDepartment of Neurology, Kindai University Faculty of Medicine, Osaka, Japan.
Kenta TakahashiDivision of Neurology and Gerontology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Morioka, Japan.
Mikhail KolmogolvCenter for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Kimberley J BillingsleyMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Manabu FunayamaDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Cornelis BlauwendraatIntegrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Nobutaka HattoriDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mutations within the genes Methods: ONT long-read sequencing was performed on patients with one reported Results: 48 patients were included in this study ( Conclusions: This data highlights that ONT long-read sequencing is a powerful tool to identify a pathogenic structural variant at the

Indexed as

Early onset Parkinson’s diseasegeneticslong-read sequencingParkinson’s diseasePINK1PRKNstructural variant

Identifiers

PMID39108517
PMCPMC11302705

What OpenQuestion holds

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Registered trials

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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.