Nature Communications (Oct 2022)
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
- Robert Schöpflin,
- Uirá Souto Melo,
- Hossein Moeinzadeh,
- David Heller,
- Verena Laupert,
- Jakob Hertzberg,
- Manuel Holtgrewe,
- Nico Alavi,
- Marius-Konstantin Klever,
- Julius Jungnitsch,
- Emel Comak,
- Seval Türkmen,
- Denise Horn,
- Yannis Duffourd,
- Laurence Faivre,
- Patrick Callier,
- Damien Sanlaville,
- Orsetta Zuffardi,
- Romano Tenconi,
- Nehir Edibe Kurtas,
- Sabrina Giglio,
- Bettina Prager,
- Anna Latos-Bielenska,
- Ida Vogel,
- Merete Bugge,
- Niels Tommerup,
- Malte Spielmann,
- Antonio Vitobello,
- Vera M. Kalscheuer,
- Martin Vingron,
- Stefan Mundlos
Affiliations
- Robert Schöpflin
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- Uirá Souto Melo
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- Hossein Moeinzadeh
- Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology
- David Heller
- Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology
- Verena Laupert
- Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology
- Jakob Hertzberg
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- Manuel Holtgrewe
- CUBI—Core Unit Bioinformatics, Berlin Institute of Health
- Nico Alavi
- Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology
- Marius-Konstantin Klever
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- Julius Jungnitsch
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- Emel Comak
- Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology
- Seval Türkmen
- Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin
- Denise Horn
- Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin
- Yannis Duffourd
- UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD
- Laurence Faivre
- UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD
- Patrick Callier
- UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD
- Damien Sanlaville
- Department of Medical Genetics, University Hospital of Lyon
- Orsetta Zuffardi
- Medical Genetics, Department of Molecular Medicine, University of Pavia
- Romano Tenconi
- Genetica Clinica, Dipartimento di Pediatria, Università di Padova
- Nehir Edibe Kurtas
- Medical Genetics Unit, Meyer Children’s University Hospital
- Sabrina Giglio
- Medical Genetics Unit, University of Cagliari
- Bettina Prager
- Praxis für Humangenetik, Kinderzentrum Dresden-Friedrichstadt
- Anna Latos-Bielenska
- Department of Medical Genetics, University of Medical Sciences in Poznan
- Ida Vogel
- Department for Clinical Medicine, Aarhus University
- Merete Bugge
- Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen
- Niels Tommerup
- Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen
- Malte Spielmann
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- Antonio Vitobello
- UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD
- Vera M. Kalscheuer
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- Martin Vingron
- Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology
- Stefan Mundlos
- Max Planck Institute for Molecular Genetics, RG Development & Disease
- DOI
- https://doi.org/10.1038/s41467-022-34053-7
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 15
Abstract
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and the three-dimensional chromatin architecture. They find breakpoints are enriched in inactive regions and can result in chromatin domain fusions.
