Publications by authors named "Mario Cáceres"

39Publications

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

Authors:
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

Genome Res 2020 Nov 22;30(11):1680-1693. Epub 2020 Oct 22.

Dipartimento di Biologia, Università degli Studi di Bari "Aldo Moro," Bari 70125, Italy.

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November 2020

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.

Authors:
Marta Puig Jon Lerga-Jaso Carla Giner-Delgado Sarai Pacheco David Izquierdo Alejandra Delprat Magdalena Gayà-Vidal Jack F Regan George Karlin-Neumann Mario Cáceres

Genome Res 2020 05 18;30(5):724-735. Epub 2020 May 18.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, 08193 Bellaterra (Barcelona), Spain.

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May 2020

Evolutionary and functional impact of common polymorphic inversions in the human genome.

Authors:
Carla Giner-Delgado Sergi Villatoro Jon Lerga-Jaso Magdalena Gayà-Vidal Meritxell Oliva David Castellano Lorena Pantano Bárbara D Bitarello David Izquierdo Isaac Noguera Iñigo Olalde Alejandra Delprat Antoine Blancher Carles Lalueza-Fox Tõnu Esko Paul F O'Reilly Aida M Andrés Luca Ferretti Marta Puig Mario Cáceres

Nat Commun 2019 09 17;10(1):4222. Epub 2019 Sep 17.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, 08193, Spain.

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September 2019

Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.

Authors:
David Vicente-Salvador Marta Puig Magdalena Gayà-Vidal Sarai Pacheco Carla Giner-Delgado Isaac Noguera David Izquierdo Alexander Martínez-Fundichely Aurora Ruiz-Herrera Xavier Estivill Cristina Aguado José Ignacio Lucas-Lledó Mario Cáceres

Hum Mol Genet 2017 02;26(3):567-581

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra (Barcelona), Spain.

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February 2017

Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.

Authors:
Marta Puig David Castellano Lorena Pantano Carla Giner-Delgado David Izquierdo Magdalena Gayà-Vidal José Ignacio Lucas-Lledó Tõnu Esko Chikashi Terao Fumihiko Matsuda Mario Cáceres

PLoS Genet 2015 Oct 1;11(10):e1005495. Epub 2015 Oct 1.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

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October 2015

Structural variants, much ado about nothing?

Authors:
Mario Cáceres

Brief Funct Genomics 2015 Sep;14(5):303-4

Institució Catalana de Recerca i Estudis Avançats (ICREA) and Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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September 2015

Human inversions and their functional consequences.

Authors:
Marta Puig Sònia Casillas Sergi Villatoro Mario Cáceres

Brief Funct Genomics 2015 Sep 20;14(5):369-79. Epub 2015 May 20.

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September 2015

Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm.

Authors:
José Ignacio Lucas-Lledó David Vicente-Salvador Cristina Aguado Mario Cáceres

BMC Bioinformatics 2014 May 29;15:163. Epub 2014 May 29.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, 08193 Bellaterra (Barcelona), Spain.

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May 2014

Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

Authors:
Cristina Aguado Magdalena Gayà-Vidal Sergi Villatoro Meritxell Oliva David Izquierdo Carla Giner-Delgado Víctor Montalvo Judit García-González Alexander Martínez-Fundichely Laia Capilla Aurora Ruiz-Herrera Xavier Estivill Marta Puig Mario Cáceres

PLoS Genet 2014 Mar 20;10(3):e1004208. Epub 2014 Mar 20.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra (Barcelona), Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

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March 2014

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.

Authors:
Juan R González Alejandro Cáceres Tonu Esko Ivon Cuscó Marta Puig Mikel Esnaola Judith Reina Valerie Siroux Emmanuelle Bouzigon Rachel Nadif Eva Reinmaa Lili Milani Mariona Bustamante Deborah Jarvis Josep M Antó Jordi Sunyer Florence Demenais Manolis Kogevinas Andres Metspalu Mario Cáceres Luis A Pérez-Jurado

Am J Hum Genet 2014 Mar 20;94(3):361-72. Epub 2014 Feb 20.

Hospital del Mar Research Institute (IMIM), Barcelona 08003, Spain; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona 08003, Spain. Electronic address:

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March 2014

InvFEST, a database integrating information of polymorphic inversions in the human genome.

Authors:
Alexander Martínez-Fundichely Sònia Casillas Raquel Egea Miquel Ràmia Antonio Barbadilla Lorena Pantano Marta Puig Mario Cáceres

Nucleic Acids Res 2014 Jan 18;42(Database issue):D1027-32. Epub 2013 Nov 18.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain, Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain and Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

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January 2014

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild.

Authors:
Javier Prado-Martinez Irene Hernando-Herraez Belen Lorente-Galdos Marc Dabad Oscar Ramirez Carlos Baeza-Delgado Carlos Morcillo-Suarez Can Alkan Fereydoun Hormozdiari Emanuele Raineri Jordi Estellé Marcos Fernandez-Callejo Mònica Valles Lars Ritscher Torsten Schöneberg Elisa de la Calle-Mustienes Sònia Casillas Raquel Rubio-Acero Marta Melé Johannes Engelken Mario Caceres Jose Luis Gomez-Skarmeta Marta Gut Jaume Bertranpetit Ivo G Gut Teresa Abello Evan E Eichler Ismael Mingarro Carles Lalueza-Fox Arcadi Navarro Tomas Marques-Bonet

BMC Genomics 2013 May 31;14:363. Epub 2013 May 31.

Institut de Biologia Evolutiva, (CSIC-Universitat Pompeu Fabra), PRBB, Barcelona 08003, Spain.

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May 2013

PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data.

Authors:
Geòrgia Escaramís Cristian Tornador Laia Bassaganyas Raquel Rabionet Jose M C Tubio Alexander Martínez-Fundichely Mario Cáceres Marta Gut Stephan Ossowski Xavier Estivill

PLoS One 2013 21;8(5):e63377. Epub 2013 May 21.

Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Spain.

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December 2013

On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing.

Authors:
José Ignacio Lucas Lledó Mario Cáceres

PLoS One 2013 23;8(4):e61292. Epub 2013 Apr 23.

Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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November 2013

Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders.

Authors:
Laia Bassaganyas Eva Riveira-Muñoz Manel García-Aragonés Juan R González Mario Cáceres Lluís Armengol Xavier Estivill

BMC Genomics 2013 Apr 17;14:261. Epub 2013 Apr 17.

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April 2013

Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.

Authors:
Rachele Cagliani Franca R Guerini Raquel Rubio-Acero Francesca Baglio Diego Forni Cristina Agliardi Ludovica Griffanti Matteo Fumagalli Uberto Pozzoli Stefania Riva Elena Calabrese Martin Sikora Ferran Casals Giacomo P Comi Nereo Bresolin Mario Cáceres Mario Clerici Manuela Sironi

Hum Mutat 2013 May 2;34(5):743-53. Epub 2013 Apr 2.

Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy.

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May 2013

Identification of polymorphic inversions from genotypes.

Authors:
Alejandro Cáceres Suzanne S Sindi Benjamin J Raphael Mario Cáceres Juan R González

BMC Bioinformatics 2012 Feb 9;13:28. Epub 2012 Feb 9.

Center for Research in Environmental Epidemiology, and Institut Municipal d'Investigació Mèdica, Barcelona 08003, Spain.

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February 2012

Variants in SNAP25 are targets of natural selection and influence verbal performances in women.

Authors:
Rachele Cagliani Stefania Riva Cecilia Marino Matteo Fumagalli Maria Grazia D'Angelo Valentina Riva Giacomo P Comi Uberto Pozzoli Diego Forni Mario Cáceres Nereo Bresolin Mario Clerici Manuela Sironi

Cell Mol Life Sci 2012 May 23;69(10):1705-15. Epub 2011 Dec 23.

Bioinformatic Lab, Scientific Institute IRCCS E. Medea, Via don L. Monza 20, Bosisio Parini, LC, Italy.

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May 2012

Identification of copy number variants defining genomic differences among major human groups.

Authors:
Lluís Armengol Sergi Villatoro Juan R González Lorena Pantano Manel García-Aragonés Raquel Rabionet Mario Cáceres Xavier Estivill

PLoS One 2009 Sep 30;4(9):e7230. Epub 2009 Sep 30.

Genetic Causes of Disease Group, Genes and Disease Program, Center for Genomic Regulation (CRG-UPF) and CIBERESP, Barcelona, Catalonia, Spain.

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September 2009

miR-34a contributes to megakaryocytic differentiation of K562 cells independently of p53.

Authors:
Francisco Navarro David Gutman Eti Meire Mario Cáceres Isidore Rigoutsos Zvi Bentwich Judy Lieberman

Blood 2009 Sep 7;114(10):2181-92. Epub 2009 Jul 7.

Immune Disease Institute and Department of Pediatrics, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA.

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September 2009