Relationship of Somatic Structural Variation Mosaicism to Aging and Disease Phenotypes

Project Information

MOSAIC

Grant agreement ID: 773026

DOI 10.3030/773026

Project closed

EC signature date 26 April 2018

Start date 1 February 2019

End date 31 March 2024

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost € 1 997 060,00

EU contribution € 1 997 060,00

Coordinated by

EUROPEAN MOLECULAR BIOLOGY LABORATORY
Germany

Publications

Peer reviewed articles (9)

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

Author(s): David Porubsky, Peter Ebert, Peter A. Audano, Mitchell R. Vollger, William T. Harvey, Pierre Marijon, Jana Ebler, Katherine M. Munson, Melanie Sorensen, Arvis Sulovari, Marina Haukness, Maryam Ghareghani, Peter M. Lansdorp, Benedict Paten, Scott E. Devine, Ashley D. Sanders, Charles Lee, Mark J. P. Chaisson, Jan O. Korbel, Evan E. Eichler, Tobias Marschall
Published in: Nature Biotechnology, Issue 39/3, 2021, Page(s) 302-308, ISSN 1087-0156
Publisher: Nature Publishing Group
DOI: 10.1038/s41587-020-0719-5

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Author(s): Mark J. P. Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex R. Hastie, Danny Antaki, Thomas Anantharaman, Peter A. Audano, Harrison Brand, Stuart Ca
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-018-08148-z

Recurrent inversion toggling and great ape genome evolution

Author(s): David Porubsky, Ashley D. Sanders, Wolfram Höps, PingHsun Hsieh, Arvis Sulovari, Ruiyang Li, Ludovica Mercuri, Melanie Sorensen, Shwetha C. Murali, David Gordon, Stuart Cantsilieris, Alex A. Pollen, Mario Ventura, Francesca Antonacci, Tobias Marschall, Jan O. Korbel, Evan E. Eichler
Published in: Nature Genetics, Issue 52/8, 2020, Page(s) 849-858, ISSN 1061-4036
Publisher: Nature Publishing Group
DOI: 10.1038/s41588-020-0646-x

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

Author(s): David Porubsky; Wolfram Höps; Hufsah Ashraf; PingHsun Hsieh; Bernardo Rodriguez-Martin; Feyza Yilmaz; Jana Ebler; Pille Hallast; Flavia Angela Maria Maggiolini; William T. Harvey; Barbara Henning; Peter A. Audano; David S. Gordon; Peter Ebert; Patrick Hasenfeld; Eva Benito; Qihui Zhu; Charles Lee; Francesca Antonacci; Matthias Steinrücken; Christine R. Beck; Ashley D. Sanders; Tobias Marschall;
Published in: Cell, Issue 185, 2022, ISSN 0346-251X
Publisher: Pergamon Press Ltd.
DOI: 10.1016/j.cell.2022.04.017

Functional Analysis of Structural Variants in Single Cells using Strand-seq

Author(s): Jeong, Hyobin; Grimes, Karen; Rauwolf, Kerstin K; Bruch, Peter-Martin; Rausch, Tobias; Hasenfeld, Patrick; Benito, Eva; Roider, Tobias; Sabarinathan, Radhakrishnan; Porubsky, David; Herbst, Sophie A; Erarslan-Uysal, Büşra; Jann, Johann-Christoph; Marschall, Tobias; Nowak, Daniel; Bourquin, Jean-Pierre; Kulozik, Andreas E; Dietrich, Sascha; Bornhauser, Beat; Sanders, Ashley D; Korbel, Jan O
Published in: Nature Biotechnology, Issue 1, 2022, Page(s) 41, ISSN 1087-0156
Publisher: Nature Publishing Group
DOI: 10.1038/s41587-022-01551-4

Single-cell analysis of structural variations and complex rearrangements with tri-channel processing

Author(s): Ashley D. Sanders, Sascha Meiers, Maryam Ghareghani, David Porubsky, Hyobin Jeong, M. Alexandra C. C. van Vliet, Tobias Rausch, Paulina Richter-Pechańska, Joachim B. Kunz, Silvia Jenni, Davide Bolognini, Gabriel M. C. Longo, Benjamin Raeder, Venla Kinanen, Jürgen Zimmermann, Vladimir Benes, Martin Schrappe, Balca R. Mardin, Andreas E. Kulozik, Beat Bornhauser, Jean-Pierre Bourquin, Tobias Marsch
Published in: Nature Biotechnology, Issue 38/3, 2020, Page(s) 343-354, ISSN 1087-0156
Publisher: Nature Publishing Group
DOI: 10.1038/s41587-019-0366-x

VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing

Author(s): Davide Bolognini, Ashley Sanders, Jan O Korbel, Alberto Magi, Vladimir Benes, Tobias Rausch
Published in: Bioinformatics, 2019, ISSN 1367-4803
Publisher: Oxford University Press
DOI: 10.1093/bioinformatics/btz719

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution

Author(s): Flavia Angela Maria Maggiolini, Ashley D. Sanders, Colin James Shew, Arvis Sulovari, Yafei Mao, Marta Puig, Claudia Rita Catacchio, Maria Dellino, Donato Palmisano, Ludovica Mercuri, Miriana Bitonto, David Porubský, Mario Cáceres, Evan E. Eichler, Mario Ventura, Megan Y. Dennis, Jan O. Korbel, Francesca Antonacci
Published in: Genome Research, Issue 30/11, 2020, Page(s) 1680-1693, ISSN 1088-9051
Publisher: Cold Spring Harbor Laboratory Press
DOI: 10.1101/gr.265322.120

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Author(s): Peter Ebert, Peter A. Audano, Qihui Zhu, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Jiadong Lin, Tobias Rausch, Yu Chen, Jingwen Ren, Martin Santamarina, Wolfram Höps, Hufsah Ashraf, Nelson T. Chuang, Xiaofei Yang, Katherine M. Munson, Alexandra P. L
Published in: Science, Issue 372/6537, 2021, ISSN 0036-8075
Publisher: American Association for the Advancement of Science
DOI: 10.1126/science.abf7117

Other (4)

Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders

Author(s): Porubsky, David, Wolfram Höps, Hufsah Ashraf, Pinghsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, et al.
Published in: 2021
Publisher: Cold Spring Harbor Laboratory
DOI: 10.1101/2021.12.20.472354

Cell type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells

Author(s): Grimes K , Jeong H , Amoah A , Xu N , Niemann J , Raeder B , Hasenfeld P , Stober C , Rausch T , Benito E , Jann J , Nowak D , Emini R , Hoenicka M , Liebold A , Ho A , Shuai S , Geiger H , Sanders AD , Korbel JO
Published in: 2023
Publisher: BioRxiv
DOI: 10.1101/2023.07.25.550502

Haplotype-Aware Single-Cell Multiomics Uncovers Functional Effects of Somatic Structural Variation

Author(s): Jeong, Hyobin, Karen Grimes, Peter-Martin Bruch, Tobias Rausch, Patrick Hasenfeld, Radhakrishnan Sabarinathan, David Porubsky, et al.
Published in: 2021
Publisher: Cold Spring Harbor Laboratory
DOI: 10.1101/2021.11.11.468039

MosaiCatcher v2: a single-cell structural variations detection and analysis reference framework based on Strand-seq

Author(s): Weber, Thomas, Marco Raffaele Cosenza, and Jan Korbel
Published in: 2023
Publisher: BioRxiv
DOI: 10.1101/2023.07.13.548805

Intellectual Property Rights

Patent (2)

COMPREHENSIVE DETECTION OF SINGLE CELL GENETIC STRUCTURAL VARIATIONS

Application/Publication number: 20 20060245
Date: 2020-04-09

COMPREHENSIVE DETECTION OF SINGLE CELL GENETIC STRUCTURAL VARIATIONS

Application/Publication number: 20 20060245
Date: 2020-04-09