Publications by authors named "Mario Caceres"

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Structural variation in 1,019 diverse humans based on long-read sequencing.
Siegfried Schloissnig, Samarendra Pani, Jana Ebler, Carsten Hain, Vasiliki Tsapalou

Nature· August 2025

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Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.
Sara Azidane, Xavier Gallego, Lynn Durham, Mario Cáceres, Emre Guney

HGG Adv· July 2024

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Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Frauke Degenhardt, David Ellinghaus, Simonas Juzenas, Jon Lerga-Jaso, Mareike Wendorff

Hum Mol Genet· November 2022

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Genomic architecture and functional effects of potential human inversion supergenes.
Elena Campoy, Marta Puig, Illya Yakymenko, Jon Lerga-Jaso, Mario Cáceres

Philos Trans R Soc Lond B Biol Sci· August 2022

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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Jordi Valls-Margarit, Iván Galván-Femenía, Daniel Matías-Sánchez, Natalia Blay, Montserrat Puiggròs

Nucleic Acids Res· March 2022

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Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.
Flavia Angela Maria Maggiolini, Ashley D Sanders, Colin James Shew, Arvis Sulovari, Yafei Mao

Genome Res· November 2020

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Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.
Marta Puig, Jon Lerga-Jaso, Carla Giner-Delgado, Sarai Pacheco, David Izquierdo

Genome Res· May 2020

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Evolutionary and functional impact of common polymorphic inversions in the human genome.
Carla Giner-Delgado, Sergi Villatoro, Jon Lerga-Jaso, Magdalena Gayà-Vidal, Meritxell Oliva

Nat Commun· September 2019

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Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.
David Vicente-Salvador, Marta Puig, Magdalena Gayà-Vidal, Sarai Pacheco, Carla Giner-Delgado

Hum Mol Genet· February 2017

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Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.
Marta Puig, David Castellano, Lorena Pantano, Carla Giner-Delgado, David Izquierdo

PLoS Genet· October 2015

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Human inversions and their functional consequences.
Marta Puig, Sònia Casillas, Sergi Villatoro, Mario Cáceres

Brief Funct Genomics· September 2015

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Structural variants, much ado about nothing?
Mario Cáceres

Brief Funct Genomics· September 2015

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Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm.
José Ignacio Lucas-Lledó, David Vicente-Salvador, Cristina Aguado, Mario Cáceres

BMC Bioinformatics· May 2014

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A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.
Juan R González, Alejandro Cáceres, Tonu Esko, Ivon Cuscó, Marta Puig

Am J Hum Genet· March 2014

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Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.
Cristina Aguado, Magdalena Gayà-Vidal, Sergi Villatoro, Meritxell Oliva, David Izquierdo

PLoS Genet· March 2014

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InvFEST, a database integrating information of polymorphic inversions in the human genome.
Alexander Martínez-Fundichely, Sònia Casillas, Raquel Egea, Miquel Ràmia, Antonio Barbadilla

Nucleic Acids Res· January 2014

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PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data.
Geòrgia Escaramís, Cristian Tornador, Laia Bassaganyas, Raquel Rabionet, Jose M C Tubio

PLoS One· December 2013

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On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing.
José Ignacio Lucas Lledó, Mario Cáceres

PLoS One· November 2013

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Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.
Rachele Cagliani, Franca R Guerini, Raquel Rubio-Acero, Francesca Baglio, Diego Forni

Hum Mutat· May 2013

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The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild.
Javier Prado-Martinez, Irene Hernando-Herraez, Belen Lorente-Galdos, Marc Dabad, Oscar Ramirez, Mario Caceres

BMC Genomics· May 2013

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Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders.
Laia Bassaganyas, Eva Riveira-Muñoz, Manel García-Aragonés, Juan R González, Mario Cáceres

BMC Genomics· April 2013

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Variants in SNAP25 are targets of natural selection and influence verbal performances in women.
Rachele Cagliani, Stefania Riva, Cecilia Marino, Matteo Fumagalli, Maria Grazia D'Angelo

Cell Mol Life Sci· May 2012

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Identification of polymorphic inversions from genotypes.
Alejandro Cáceres, Suzanne S Sindi, Benjamin J Raphael, Mario Cáceres, Juan R González

BMC Bioinformatics· February 2012

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miR-34a contributes to megakaryocytic differentiation of K562 cells independently of p53.
Francisco Navarro, David Gutman, Eti Meire, Mario Cáceres, Isidore Rigoutsos

Blood· September 2009

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Identification of copy number variants defining genomic differences among major human groups.
Lluís Armengol, Sergi Villatoro, Juan R González, Lorena Pantano, Manel García-Aragonés

PLoS One· September 2009

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