Evidence map›Paper›PMID 41282915›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Stefania Magri, Sara Negri, Carlo Gaetano, Adriana Rebelo, Jacquelyn Schatzman Raposo and 34 more

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In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

44 authors.

Ilaria QuartesanDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Stefano FacchiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Arianna ManiniDepartment of Pathophysiology and Transplantation, "Dino Ferrari" Centre, Università degli Studi di Milano, Milan, Italy.
Ricardo Parolin SchnekenbergDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Chiara PisciottaUnit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.
Stefania MagriUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Sara NegriLaboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria - MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, 27100, Italy.
Carlo GaetanoLaboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria - MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, 27100, Italy.
Adriana RebeloDr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Jacquelyn Schatzman RaposoDr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Radim MazanecNeurological Department of the Motol University Hospital, Prague, Czech Republic.
Riccardo CurroDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Natalia DominikDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0003-4900-9877
Matilde LauràDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Tiffany GriderNeurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA, USA.
Shawna Me FeelyDivision of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.
Vera FridmanDepartment of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.
Alessandro BertiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Gustavo Maximiano AlvesDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Lucia FerulloDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Arianna GhiaDepartment of Brain and Behavioural Sciences, University of Pavia, 27100 Pavia, Italy.
Claudio CacciaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Francesca BalistreriUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Paola SaveriUnit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.
Luca CrivellariUnit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.
Isabella MoroniDepartment of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Federica Rachele DantiDepartment of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Tiziana MonginiDepartment of Neurosciences Rita Levi Montalcini, University of Turin, Turin, Italy.
Franco TaroniUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Michaela Auer-GrumbachDepartment of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.
Enrico BugiardiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
James N SleighDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0002-3782-9045
Arianna TucciWilliam Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0002-2866-7777
Petra LaššuthováDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Pavel SeemanDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Anna BasileDepartment of Molecular Medicine, Medical Genetics Unit, University of Pavia, 27100 Pavia, Italy.
Elisa GiorgioDepartment of Molecular Medicine, Medical Genetics Unit, University of Pavia, 27100 Pavia, Italy.
Michael E ShyDepartment of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Stephan ZuchnerDr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.
Mary M ReillyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Davide PareysonUnit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133, Italy.
Andrea CorteseDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0002-2208-5311

Funding

Genomic Studies in Charcot-Marie-Tooth DiseaseR01NS105755 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2019 to 2023
$3.2M
NINDS NIH HHS R01 NS105755
6 · The paper itself

Abstract

Historically defined as non-functional copies of coding genes, pseudogenes are an abundant yet underexplored element in the human genome, despite growing evidence linking them to human diseases. From a genome-wide screen, we identified 411 gene-pseudogene pairs located in opposite orientation, an arrangement which is permissive for the occurrence of inversions, including 46 genes already associated with human disease. Next, by analysing long read sequencing (LRS) data from the 1000 Genomes Project, we confirmed that at least 3.6% of healthy individuals carry an inversion involving one of these gene/pseudogene pairs, while they were previously undetected by short read sequencing. Most importantly, we identified novel and recurrent inversions between

Identifiers

PMID41282915
PMCPMC12632684

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