Evidence map›Paper›PMID 36292638›Full record

ArticleGenes2022

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.

Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 44% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

12 authors at 6 institutions in 3 countries.

Natalie PlutaInstitute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.
Sabine HoffjanDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Frederic ZimmerInstitute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.
Cornelia KöhlerDepartment of Neuropaediatrics, University Children's Hospital, Ruhr-University Bochum, 44801 Bochum, Germany.
Thomas LückeDepartment of Neuropaediatrics, University Children's Hospital, Ruhr-University Bochum, 44801 Bochum, Germany.
Jennifer MohrDepartment of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
Matthias VorgerdDepartment of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.ORCID 0000-0002-1782-4642
Hoa Huu Phuc NguyenDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
David AtlanPhenosystems SA, 1440 Braine le Chateau, Belgium.ORCID 0000-0002-7001-6644
Beat WolfiCoSys, University of Applied Sciences Western Switzerland, 1700 Fribourg, Switzerland.ORCID 0000-0002-9307-7212
Ann-Kathrin ZaumInstitute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.
Simone RostInstitute of Human Genetics, Biocenter, University of Würzburg, 97074 Würzburg, Germany.
University of Würzburg · DEBG University Hospital Bergmannsheil Bochum · DERuhr University Bochum · DEUniversity Hospitals of the Ruhr-University of Bochum · DEHES-SO University of Applied Sciences and Arts Western Switzerland · CHPhenoSystems (Belgium) · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many cases, there is a strong suspicion that the cause must lie in unexplored gene areas, such as deep-intronic or other non-coding regions. In order to find these changes, next-generation sequencing (NGS) methods are constantly evolving, making it possible to sequence entire genomes to reveal these previously uninvestigated regions. Here, we present a young woman who was strongly suspected of having a so far genetically unsolved sarcoglycanopathy based on her clinical history and muscle biopsy. Using short read whole genome sequencing (WGS), a homozygous inversion on chromosome 13 involving

Indexed as

Muscular Dystrophies, Limb-GirdleSarcoglycansChromosomes, Human, Pair 13FemaleHomozygoteHumansWhole Genome SequencingSarcoglycansSGCG protein, humangenetic diagnosticsinversionLGMDR5muscle diseasenext generation sequencing (NGS)sarcoglycanopathySGCGwhole genome sequencing (WGS)

Identifiers

PMID36292638
PMCPMC9601614
OpenAlexW4297516514

What OpenQuestion holds

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LicenceCC BY
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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.