Publications by authors named "Mario Cáceres"

39Publications

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

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

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

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.

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.

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.

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.

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.

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

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

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

Identification of polymorphic inversions from genotypes.

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

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

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.

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