Evidence map›Paper›PMID 37790330›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Long-read sequencing resolves a complex structural variant in

Kensuke Daida, Manabu Funayama, Kimberley J Billingsley, Laksh Malik, Abigail Miano-Burkhardt, Hampton L Leonard, Mary B Makarious, Hirotaka Iwaki, Jinhui Ding, J Raphael Gibbs and 9 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. 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, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors at 4 institutions in 4 countries.

Kensuke DaidaIntegrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Manabu FunayamaDepartment of Neurology, Juntendo University School of Medicine, Hongo, Tokyo, Japan.
Kimberley J BillingsleyMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
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.
Abigail Miano-BurkhardtMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Hampton L LeonardCenter 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.
Mary B MakariousMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Hirotaka IwakiCenter 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.
Jinhui DingBiocomputationalGroup, Laboratory of Neurogenetics,National Institute on Aging, NIH, PorterNeuroscience ResearchCenter,Bethesda, MD, USA.
J Raphael GibbsBiocomputationalGroup, Laboratory of Neurogenetics,National Institute on Aging, NIH, PorterNeuroscience ResearchCenter,Bethesda, MD, USA.
Mayu IshiguroDepartment of Neurology, Juntendo University School of Medicine, Hongo, Tokyo, Japan.
Hiroyo YoshinoResearch Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Kotaro OgakiDepartment of Neurology, Juntendo University School of Medicine, Hongo, Tokyo, Japan.
Genko OyamaDepartment of Neurology, Juntendo University School of Medicine, Hongo, Tokyo, Japan.
Kenya NishiokaDepartment of Neurology, Juntendo University School of Medicine, Hongo, Tokyo, Japan.
Risa NonakaDepartment of Neurology, Juntendo University School of Medicine, Hongo, Tokyo, Japan.
Wado AkamatsuCenter for Genomic and Regenerative Medicine, Graduate School 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, Juntendo University School of Medicine, Hongo, Tokyo, Japan.
Juntendo University · JPNational Institutes of Health · USNational Institute on Aging · USRIKEN Center for Brain Science · JP

Funding

NINDS Biomarker RepositoryU24NS095871 · NINDS · INDIANA UNIVERSITY INDIANAPOLIS · PI TATIANA M. FOROUD · 2015 to 2026
$18.3M
NINDS NIH HHS U24 NS095871
6 · The paper itself

Abstract

Background: Objectives: To identify complex structural variants in Methods: We investigated the genetic cause of monozygotic twins presenting with a young onset dystonia-parkinsonism using targeted sequencing, whole exome sequencing, multiple ligation probe amplification, and long-read. We assessed the presence and frequency of complex inversions overlapping Results: Multiple ligation probe amplification identified a heterozygous exon 3 deletion in Conclusions: This is the first report describing a large 7Mb inversion involving breakpoints outside of

Identifiers

PMID37790330
PMCPMC10543050
OpenAlexW4386021326

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.