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Relationship of Somatic Structural Variation Mosaicism to Aging and Disease Phenotypes

Publicaciones

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

Autores: 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
Publicado en: Nature Biotechnology, Edición 39/3, 2021, Página(s) 302-308, ISSN 1087-0156
Editor: Nature Publishing Group
DOI: 10.1038/s41587-020-0719-5

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

Autores: 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
Publicado en: Nature Communications, Edición 10/1, 2019, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-018-08148-z

Recurrent inversion toggling and great ape genome evolution

Autores: 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
Publicado en: Nature Genetics, Edición 52/8, 2020, Página(s) 849-858, ISSN 1061-4036
Editor: Nature Publishing Group
DOI: 10.1038/s41588-020-0646-x

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

Autores: 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;
Publicado en: Cell, Edición 185, 2022, ISSN 0346-251X
Editor: Pergamon Press Ltd.
DOI: 10.1016/j.cell.2022.04.017

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

Autores: 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
Publicado en: Nature Biotechnology, Edición 1, 2022, Página(s) 41, ISSN 1087-0156
Editor: Nature Publishing Group
DOI: 10.1038/s41587-022-01551-4

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

Autores: 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
Publicado en: Nature Biotechnology, Edición 38/3, 2020, Página(s) 343-354, ISSN 1087-0156
Editor: Nature Publishing Group
DOI: 10.1038/s41587-019-0366-x

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

Autores: Davide Bolognini, Ashley Sanders, Jan O Korbel, Alberto Magi, Vladimir Benes, Tobias Rausch
Publicado en: Bioinformatics, 2019, ISSN 1367-4803
Editor: 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

Autores: 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
Publicado en: Genome Research, Edición 30/11, 2020, Página(s) 1680-1693, ISSN 1088-9051
Editor: Cold Spring Harbor Laboratory Press
DOI: 10.1101/gr.265322.120

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

Autores: 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
Publicado en: Science, Edición 372/6537, 2021, ISSN 0036-8075
Editor: American Association for the Advancement of Science
DOI: 10.1126/science.abf7117

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

Autores: Porubsky, David, Wolfram Höps, Hufsah Ashraf, Pinghsun Hsieh, Bernardo Rodriguez-Martin, Feyza Yilmaz, Jana Ebler, et al.
Publicado en: 2021
Editor: 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

Autores: 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
Publicado en: 2023
Editor: BioRxiv
DOI: 10.1101/2023.07.25.550502

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

Autores: Jeong, Hyobin, Karen Grimes, Peter-Martin Bruch, Tobias Rausch, Patrick Hasenfeld, Radhakrishnan Sabarinathan, David Porubsky, et al.
Publicado en: 2021
Editor: 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

Autores: Weber, Thomas, Marco Raffaele Cosenza, and Jan Korbel
Publicado en: 2023
Editor: BioRxiv
DOI: 10.1101/2023.07.13.548805

Derechos de propiedad intelectual

COMPREHENSIVE DETECTION OF SINGLE CELL GENETIC STRUCTURAL VARIATIONS

Número de solicitud/publicación: 20 20060245
Fecha: 2020-04-09

COMPREHENSIVE DETECTION OF SINGLE CELL GENETIC STRUCTURAL VARIATIONS

Número de solicitud/publicación: 20 20060245
Fecha: 2020-04-09

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