Relationship of Somatic Structural Variation Mosaicism to Aging and Disease Phenotypes

Informazioni relative al progetto

MOSAIC

ID dell’accordo di sovvenzione: 773026

DOI

10.3030/773026

Progetto chiuso

Data della firma CE 26 Aprile 2018

Data di avvio 1 Febbraio 2019

Data di completamento 31 Marzo 2024

Finanziato da

• EXCELLENT SCIENCE - European Research Council (ERC)

Costo totale

€ 1 997 060,00

Contributo UE

€ 1 997 060,00

Coordinato da

EUROPEAN MOLECULAR BIOLOGY LABORATORY
Germany

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Pubblicazioni

Peer reviewed articles (9)

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

Autori: 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
Pubblicato in: Nature Biotechnology, Numero 39/3, 2021, Pagina/e 302-308, ISSN 1087-0156
Editore: Nature Publishing Group
DOI: 10.1038/s41587-020-0719-5

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

Autori: 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
Pubblicato in: Nature Communications, Numero 10/1, 2019, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-018-08148-z

Recurrent inversion toggling and great ape genome evolution

Autori: 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
Pubblicato in: Nature Genetics, Numero 52/8, 2020, Pagina/e 849-858, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-020-0646-x

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

Autori: 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;
Pubblicato in: Cell, Numero 185, 2022, ISSN 0346-251X
Editore: Pergamon Press Ltd.
DOI: 10.1016/j.cell.2022.04.017

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

Autori: 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
Pubblicato in: Nature Biotechnology, Numero 1, 2022, Pagina/e 41, ISSN 1087-0156
Editore: Nature Publishing Group
DOI: 10.1038/s41587-022-01551-4

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

Autori: 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
Pubblicato in: Nature Biotechnology, Numero 38/3, 2020, Pagina/e 343-354, ISSN 1087-0156
Editore: Nature Publishing Group
DOI: 10.1038/s41587-019-0366-x

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

Autori: Davide Bolognini, Ashley Sanders, Jan O Korbel, Alberto Magi, Vladimir Benes, Tobias Rausch
Pubblicato in: Bioinformatics, 2019, ISSN 1367-4803
Editore: 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

Autori: 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
Pubblicato in: Genome Research, Numero 30/11, 2020, Pagina/e 1680-1693, ISSN 1088-9051
Editore: Cold Spring Harbor Laboratory Press
DOI: 10.1101/gr.265322.120

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

Autori: 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
Pubblicato in: Science, Numero 372/6537, 2021, ISSN 0036-8075
Editore: 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

Autori: Porubsky, David, Wolfram Höps, Hufsah Ashraf, Pinghsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, et al.
Pubblicato in: 2021
Editore: 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

Autori: 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
Pubblicato in: 2023
Editore: BioRxiv
DOI: 10.1101/2023.07.25.550502

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

Autori: Jeong, Hyobin, Karen Grimes, Peter-Martin Bruch, Tobias Rausch, Patrick Hasenfeld, Radhakrishnan Sabarinathan, David Porubsky, et al.
Pubblicato in: 2021
Editore: 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

Autori: Weber, Thomas, Marco Raffaele Cosenza, and Jan Korbel
Pubblicato in: 2023
Editore: BioRxiv
DOI: 10.1101/2023.07.13.548805

Diritti di proprietà intellettuale

Patent (1)

COMPREHENSIVE DETECTION OF SINGLE CELL GENETIC STRUCTURAL VARIATIONS

Numero candidatura/pubblicazione: 20 20060245
Data: 2020-04-09
Candidato/i: EUROPEAN MOLECULAR BIOLOGY LABORATORY