Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-10-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-34053-7 |
| _version_ | 1811257223378108416 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Robert Schöpflin |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T17:53:09Z |
| format | Article |
| id | doaj.art-dc4bcc3fd9a94543a5c2f94cf91155fd |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-04-12T17:53:09Z |
| publishDate | 2022-10-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-dc4bcc3fd9a94543a5c2f94cf91155fd2022-12-22T03:22:26ZengNature PortfolioNature Communications2041-17232022-10-0113111510.1038/s41467-022-34053-7Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesRobert Schöpflin0Uirá Souto Melo1Hossein Moeinzadeh2David Heller3Verena Laupert4Jakob Hertzberg5Manuel Holtgrewe6Nico Alavi7Marius-Konstantin Klever8Julius Jungnitsch9Emel Comak10Seval Türkmen11Denise Horn12Yannis Duffourd13Laurence Faivre14Patrick Callier15Damien Sanlaville16Orsetta Zuffardi17Romano Tenconi18Nehir Edibe Kurtas19Sabrina Giglio20Bettina Prager21Anna Latos-Bielenska22Ida Vogel23Merete Bugge24Niels Tommerup25Malte Spielmann26Antonio Vitobello27Vera M. Kalscheuer28Martin Vingron29Stefan Mundlos30Max Planck Institute for Molecular Genetics, RG Development & DiseaseMax Planck Institute for Molecular Genetics, RG Development & DiseaseMax Planck Institute for Molecular Genetics, Department of Computational Molecular BiologyMax Planck Institute for Molecular Genetics, Department of Computational Molecular BiologyMax Planck Institute for Molecular Genetics, Department of Computational Molecular BiologyMax Planck Institute for Molecular Genetics, RG Development & DiseaseCUBI—Core Unit Bioinformatics, Berlin Institute of HealthMax Planck Institute for Molecular Genetics, Department of Computational Molecular BiologyMax Planck Institute for Molecular Genetics, RG Development & DiseaseMax Planck Institute for Molecular Genetics, RG Development & DiseaseMax Planck Institute for Molecular Genetics, Department of Computational Molecular BiologyInstitute for Medical and Human Genetics, Charité Universitätsmedizin BerlinInstitute for Medical and Human Genetics, Charité Universitätsmedizin BerlinUFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLADUFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLADUFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLADDepartment of Medical Genetics, University Hospital of LyonMedical Genetics, Department of Molecular Medicine, University of PaviaGenetica Clinica, Dipartimento di Pediatria, Università di PadovaMedical Genetics Unit, Meyer Children’s University HospitalMedical Genetics Unit, University of CagliariPraxis für Humangenetik, Kinderzentrum Dresden-FriedrichstadtDepartment of Medical Genetics, University of Medical Sciences in PoznanDepartment for Clinical Medicine, Aarhus UniversityWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of CopenhagenWilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of CopenhagenMax Planck Institute for Molecular Genetics, RG Development & DiseaseUFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLADMax Planck Institute for Molecular Genetics, RG Development & DiseaseMax Planck Institute for Molecular Genetics, Department of Computational Molecular BiologyMax Planck Institute for Molecular Genetics, RG Development & DiseaseHere 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.https://doi.org/10.1038/s41467-022-34053-7 |
| spellingShingle | 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 Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Nature Communications |
| title | Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes |
| title_full | Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes |
| title_fullStr | Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes |
| title_full_unstemmed | Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes |
| title_short | Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes |
| title_sort | integration of hi c with short and long read genome sequencing reveals the structure of germline rearranged genomes |
| url | https://doi.org/10.1038/s41467-022-34053-7 |
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