Joaquin Dopazo

Joaquin Dopazo

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Joaquin Dopazo

Publications by authors named "Joaquin Dopazo"

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Accelerated phosphatidylcholine turnover in macrophages promotes adipose tissue inflammation in obesity.

Elife 2019 Aug 16;8. Epub 2019 Aug 16.

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, MDU MRC, Cambridge, United Kingdom.

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http://dx.doi.org/10.7554/eLife.47990DOI Listing
August 2019

Antibiotic resistance and metabolic profiles as functional biomarkers that accurately predict the geographic origin of city metagenomics samples.

Biol Direct 2019 08 20;14(1):15. Epub 2019 Aug 20.

Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), CDCA, Hospital Virgen del Rocio, c/Manuel Siurot s/n, 41013, Sevilla, Spain.

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http://dx.doi.org/10.1186/s13062-019-0246-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701120PMC
August 2019

Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models.

BMC Bioinformatics 2019 Jul 2;20(1):370. Epub 2019 Jul 2.

Clinical Bioinformatics Area. Fundación Progreso y Salud (FPS). CDCA, Hospital Virgen del Rocio, 41013, Sevilla, Spain.

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http://dx.doi.org/10.1186/s12859-019-2969-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604281PMC
July 2019

Precision medicine needs pioneering clinical bioinformaticians.

Brief Bioinform 2019 05;20(3):752-766

Spanish National Cancer Research Centre.

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http://dx.doi.org/10.1093/bib/bbx144DOI Listing
May 2019

Gene Expression Integration into Pathway Modules Reveals a Pan-Cancer Metabolic Landscape.

Cancer Res 2018 11 22;78(21):6059-6072. Epub 2018 Aug 22.

Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), CDCA, Hospital Virgen del Rocio, Sevilla, Spain.

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http://dx.doi.org/10.1158/0008-5472.CAN-17-2705DOI Listing
November 2018

The first complete genomic structure of Butyrivibrio fibrisolvens and its chromid.

Microb Genom 2018 10 14;4(10). Epub 2018 Sep 14.

1​Biotechnology Institute, CICVyA-Instituto Nacional de Tecnología Agropecuaria (INTA), Hurlingham, Provincia de Buenos Aires, Argentina.

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http://www.microbiologyresearch.org/content/journal/mgen/10.
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http://dx.doi.org/10.1099/mgen.0.000216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249431PMC
October 2018

Models of cell signaling uncover molecular mechanisms of high-risk neuroblastoma and predict disease outcome.

Biol Direct 2018 08 22;13(1):16. Epub 2018 Aug 22.

Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), CDCA, Hospital Virgen del Rocio, c/Manuel Siurot s/n, 41013, Sevilla, Spain.

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http://dx.doi.org/10.1186/s13062-018-0219-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106876PMC
August 2018

A comparison of mechanistic signaling pathway activity analysis methods.

Brief Bioinform 2018 Jun 3. Epub 2018 Jun 3.

Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), CDCA, Hospital Virgen del Rocio, Sevilla 41013, Spain.

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http://dx.doi.org/10.1093/bib/bby040DOI Listing
June 2018

Graph-theoretical comparison of normal and tumor networks in identifying BRCA genes.

BMC Syst Biol 2017 Nov 22;11(1):110. Epub 2017 Nov 22.

Computer Engineering, Antalya Bilim University, Antalya, Turkey.

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http://dx.doi.org/10.1186/s12918-017-0495-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700672PMC
November 2017

VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy.

BMC Bioinformatics 2017 Sep 20;18(1):421. Epub 2017 Sep 20.

Clinical Bioinformatics Research Area, Fundación Progreso y Salud, Hospital Virgen del Rocío, 41013, Sevilla, Spain.

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http://dx.doi.org/10.1186/s12859-017-1837-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607581PMC
September 2017

Integration of transcriptomic and metabolic data reveals hub transcription factors involved in drought stress response in sunflower (Helianthus annuus L.).

Plant Mol Biol 2017 Jul 21;94(4-5):549-564. Epub 2017 Jun 21.

Instituto de Biotecnología, Centro de Investigaciones en Ciencias Agronómicas y Veterinarias, Instituto Nacional de Tecnología Agropecuaria, Hurlingham, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s11103-017-0625-5DOI Listing
July 2017

A new parallel pipeline for DNA methylation analysis of long reads datasets.

BMC Bioinformatics 2017 Mar 9;18(1):161. Epub 2017 Mar 9.

Department of Computational Genomics, Centro de Investigación Príncipe Felipe, Eduardo Primo Yúfera, s/n, Valencia, Spain.

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http://dx.doi.org/10.1186/s12859-017-1574-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343294PMC
March 2017

ATGC transcriptomics: a web-based application to integrate, explore and analyze de novo transcriptomic data.

BMC Bioinformatics 2017 Feb 22;18(1):121. Epub 2017 Feb 22.

Instituto de Biotecnología, Centro Investigación en Ciencias Veterinarias y Agronómicas (CICVyA) INTA, Hurlingham, Buenos Aires, Argentina.

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http://dx.doi.org/10.1186/s12859-017-1494-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320735PMC
February 2017

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Hum Genet 2016 12 19;135(12):1343-1354. Epub 2016 Aug 19.

Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet, 08908, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1007/s00439-016-1721-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065581PMC
December 2016

Dysfunctional mitochondrial fission impairs cell reprogramming.

Cell Cycle 2016 Dec 18;15(23):3240-3250. Epub 2016 Oct 18.

a Department of Biología Celular , Biología Funcional y Antropología Física, Universitat de València , Burjassot , Spain.

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http://dx.doi.org/10.1080/15384101.2016.1241930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5176137PMC
December 2016

The pan-cancer pathological regulatory landscape.

Sci Rep 2016 12 21;6:39709. Epub 2016 Dec 21.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46012, Spain.

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http://dx.doi.org/10.1038/srep39709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5175166PMC
December 2016

Web-based network analysis and visualization using CellMaps.

Bioinformatics 2016 10 13;32(19):3041-3. Epub 2016 Jun 13.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia, Spain Functional Genomics Node, (INB, PRB2, ISCIII) at CIPF, Valencia 46012, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btw332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039919PMC
October 2016

Integrated gene set analysis for microRNA studies.

Bioinformatics 2016 09 20;32(18):2809-16. Epub 2016 Jun 20.

Computational Genomics Department, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btw334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018374PMC
September 2016

Actionable pathways: interactive discovery of therapeutic targets using signaling pathway models.

Nucleic Acids Res 2016 07 2;44(W1):W212-6. Epub 2016 May 2.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46012, Spain Bioinformatics in Rare Diseases (BiER), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, 46012, Spain Functional Genomics Node, (INB, PRB2, ISCIII) at CIPF, Valencia 46012, Spain

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkw369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987920PMC
July 2016

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

Mol Biol Evol 2016 05 13;33(5):1205-18. Epub 2016 Jan 13.

Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), Sevilla, Spain Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/Consejo Superior de Investigaciones Científicas/University of Seville, Sevilla, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Sevilla, Spain

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http://dx.doi.org/10.1093/molbev/msw005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839216PMC
May 2016

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Sci Rep 2016 Apr 1;6:23910. Epub 2016 Apr 1.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.

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http://dx.doi.org/10.1038/srep23910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817143PMC
April 2016

The transcriptomics of an experimentally evolved plant-virus interaction.

Sci Rep 2016 04 26;6:24901. Epub 2016 Apr 26.

Instituto de Biología Molecular y Celular de Plantas, Consejo Superior de Investigaciones Científicas-UPV, Campus UPV CPI 8E, Ingeniero Fausto Elio s/n, 46022 València, Spain.

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http://dx.doi.org/10.1038/srep24901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845063PMC
April 2016

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

J Mol Diagn 2016 Mar 2;18(2):225-34. Epub 2016 Jan 2.

Unit of Genetics and Genomics of Neuromuscular Disorders, Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Unit 732, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain; Department of Genomics and Translational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2015.10.005DOI Listing
March 2016

Integrating transcriptomic and metabolomic analysis to understand natural leaf senescence in sunflower.

Plant Biotechnol J 2016 Feb 1;14(2):719-34. Epub 2015 Jul 1.

Instituto de Biotecnología, Centro de Investigaciones en Ciencias Agronómicas y Veterinarias, Instituto Nacional de Tecnología Agropecuaria, Hurlingham, Argentina.

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http://dx.doi.org/10.1111/pbi.12422DOI Listing
February 2016

HPG pore: an efficient and scalable framework for nanopore sequencing data.

BMC Bioinformatics 2016 Feb 27;17:107. Epub 2016 Feb 27.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46012, Spain.

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http://dx.doi.org/10.1186/s12859-016-0966-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769497PMC
February 2016

Permanent cardiac sarcomere changes in a rabbit model of intrauterine growth restriction.

PLoS One 2014 17;9(11):e113067. Epub 2014 Nov 17.

BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), IDIBAPS, University of Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0113067PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234642PMC
January 2016

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Brain 2016 Jan 24;139(Pt 1):62-72. Epub 2015 Oct 24.

2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), c/ Eduardo Primo Yúfera no. 13, 46012 Valencia, Spain 4 Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), c/ Eduardo Primo Yúfera no. 13, 46012 Valencia, Spain

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http://brain.oxfordjournals.org/content/brain/early/2015/10/
Web Search
http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awv311DOI Listing
January 2016

Differential Features between Chronic Skin Inflammatory Diseases Revealed in Skin-Humanized Psoriasis and Atopic Dermatitis Mouse Models.

J Invest Dermatol 2016 Jan;136(1):136-45

Epithelial Biomedicine Division, Basic Research Department, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Valencia, Spain; Fundación Jiménez Díaz Healthcare Research Institute (IIS FJD), Madrid, Spain; Department of Bioengineering, Carlos III University (UC3M), Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X150001
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http://dx.doi.org/10.1038/JID.2015.362DOI Listing
January 2016

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

Am J Med Genet A 2016 Jan 7;170A(1):24-31. Epub 2015 Oct 7.

Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37418DOI Listing
January 2016

Using activation status of signaling pathways as mechanism-based biomarkers to predict drug sensitivity.

Sci Rep 2015 Dec 18;5:18494. Epub 2015 Dec 18.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.

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http://www.nature.com/articles/srep18494
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http://dx.doi.org/10.1038/srep18494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683444PMC
December 2015

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.

BMC Med Genomics 2015 Dec 21;8:83. Epub 2015 Dec 21.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.

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http://dx.doi.org/10.1186/s12920-015-0160-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4685628PMC
December 2015

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.

Sci Rep 2015 Nov 12;5:16473. Epub 2015 Nov 12.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.

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http://dx.doi.org/10.1038/srep16473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642299PMC
November 2015

A parallel and sensitive software tool for methylation analysis on multicore platforms.

Bioinformatics 2015 Oct 10;31(19):3130-8. Epub 2015 Jun 10.

Department of Computational Genomics, Centro de Investigación Príncipe Felipe.

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http://dx.doi.org/10.1093/bioinformatics/btv357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4679392PMC
October 2015

A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces.

PLoS Comput Biol 2015 Oct 20;11(10):e1004518. Epub 2015 Oct 20.

Bioinformatics and Systems Biology Program, Sanford-Burnham Medical Research Institute, La Jolla, California, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1004518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4616621PMC
October 2015

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

PLoS One 2014 29;9(12):e116176. Epub 2014 Dec 29.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain; Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0116176PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278866PMC
September 2015

A Phylogenetic Analysis of 34 Chloroplast Genomes Elucidates the Relationships between Wild and Domestic Species within the Genus Citrus.

Mol Biol Evol 2015 Aug 14;32(8):2015-35. Epub 2015 Apr 14.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Functional Genomics Node, Spanish National Institute of Bioinformatics at CIPF, Valencia, Spain

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http://dx.doi.org/10.1093/molbev/msv082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833069PMC
August 2015

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Am J Med Genet A 2015 Jul 30;167(7):1597-600. Epub 2015 Mar 30.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37003DOI Listing
July 2015

Assessing the impact of mutations found in next generation sequencing data over human signaling pathways.

Nucleic Acids Res 2015 Jul 16;43(W1):W270-5. Epub 2015 Apr 16.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia, 46012, Spain Functional Genomics Node, (INB) at CIPF, Valencia, 45012, Spain

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http://dx.doi.org/10.1093/nar/gkv349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489259PMC
July 2015

Babelomics 5.0: functional interpretation for new generations of genomic data.

Nucleic Acids Res 2015 Jul 20;43(W1):W117-21. Epub 2015 Apr 20.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46012, Spain Computational Genomics Chair, Bull-CIPF, Valencia, 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia, 46012, Spain Functional Genomics Node, (INB) at CIPF, Valencia, 46012, Spain

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http://dx.doi.org/10.1093/nar/gkv384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489263PMC
July 2015

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

PLoS One 2014 7;9(2):e88410. Epub 2014 Feb 7.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain ; Institut de Biomedicina (IBUB), Universitat de Barcelona, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0088410PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917917PMC
May 2015

Therapeutic targets for olive pollen allergy defined by gene markers modulated by Ole e 1-derived peptides.

Mol Immunol 2015 Apr 29;64(2):252-61. Epub 2014 Dec 29.

Immunology Department, IIS-Fundación Jiménez Díaz, UAM, Madrid, Spain; CIBERES, CIBER de Enfermedades Respiratorias, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.molimm.2014.12.002DOI Listing
April 2015

BRCA1 Alternative splicing landscape in breast tissue samples.

BMC Cancer 2015 Apr 3;15:219. Epub 2015 Apr 3.

Molecular Oncology Laboratoy, Instituto de Investigación Sanitaria San Carlos. Center affiliated to the Red Temática de Investigación Cooperativa (RD12/0036/006), Instituto Carlos III, Spanish Ministry of Economy and Competitivy, 28040, Madrid, Spain.

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http://bmccancer.biomedcentral.com/articles/10.1186/s12885-0
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http://dx.doi.org/10.1186/s12885-015-1145-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393587PMC
April 2015

PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins.

Nucleic Acids Res 2015 Jan 31;43(Database issue):D494-502. Epub 2014 Oct 31.

European Molecular Biology Laboratory (EMBL), Meyerhofstrasse 1, 69117 Heidelberg, Germany Max-Delbruck-Centre for Molecular Medicine, Berlin-Buch, Germany

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http://dx.doi.org/10.1093/nar/gku1081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383916PMC
January 2015

Fast inexact mapping using advanced tree exploration on backward search methods.

BMC Bioinformatics 2015 Jan 28;16:18. Epub 2015 Jan 28.

GRyCAP department of I3M, Universitat Politècnica de València, Building 8B, Camino de vera s/n, Valencia, 46022, Spain.

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http://dx.doi.org/10.1186/s12859-014-0438-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384339PMC
January 2015

Acceleration of short and long DNA read mapping without loss of accuracy using suffix array.

Bioinformatics 2014 Dec 20;30(23):3396-8. Epub 2014 Aug 20.

Department of Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Functional Genomics Node, (INB) at CIPF 46012, Departamento de Informática, Universidad de Valencia, 46100 Valencia, Departamento de Ingeniería y Ciencia de Computadores, Universitat Jaume I, 12071 Castellón de la Plana, Instituto de Investigación en Informática de Albacete, Universidad de Castilla-La Mancha, Campus Universitario, 02071 Albacete, Universitat Politècnica de València, Instituto de Instrumentación para Imagen Molecular, 46022 Valencia, Grupo de Investigación Biomédica de Imagen (GIBI 2^30), La Fe Polytechnic University Hospital, 46022 Valencia and Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btu553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816028PMC
December 2014

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

BMC Genet 2014 Dec 14;15:143. Epub 2014 Dec 14.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain.

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http://dx.doi.org/10.1186/s12863-014-0143-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271491PMC
December 2014

A comprehensive DNA methylation profile of epithelial-to-mesenchymal transition.

Cancer Res 2014 Oct 8;74(19):5608-19. Epub 2014 Aug 8.

Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat; Barcelona, Spain. Department of Physiological Sciences II, School of Medicine, University of Barcelona, Barcelona, Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.

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http://dx.doi.org/10.1158/0008-5472.CAN-13-3659DOI Listing
October 2014

Understanding disease mechanisms with models of signaling pathway activities.

BMC Syst Biol 2014 Oct 25;8:121. Epub 2014 Oct 25.

Department of Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Avda. Autopista del Saler, 16, 46012, Valencia, Spain.

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http://dx.doi.org/10.1186/s12918-014-0121-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213475PMC
October 2014

The role of the interactome in the maintenance of deleterious variability in human populations.

Mol Syst Biol 2014 Sep 26;10:752. Epub 2014 Sep 26.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia, Spain Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain Functional Genomics Node, (INB) at CIPF, Valencia, Spain

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299661PMC
http://dx.doi.org/10.15252/msb.20145222DOI Listing
September 2014

A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies.

Nucleic Acids Res 2014 Jul 6;42(Web Server issue):W88-93. Epub 2014 May 6.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain Functional Genomics Node, (INB) at CIPF, Valencia 46012, Spain

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http://academic.oup.com/nar/article/42/W1/W88/2437375/A-webb
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http://dx.doi.org/10.1093/nar/gku407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086071PMC
July 2014

A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications.

Nucleic Acids Res 2014 Jul 26;42(Web Server issue):W83-7. Epub 2014 May 26.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia, 46012, Spain Functional Genomics Node, (INB) at CIPF, Valencia, 46012, Spain

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http://dx.doi.org/10.1093/nar/gku472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086136PMC
July 2014

ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.

Bioinformatics 2014 Jun 26;30(12):1767-8. Epub 2014 Feb 26.

Bioinformatics Department, Genomics and Bioinformatics Platform of Andalusia (GBPA), 41092 Seville, Computational Genomics Department, Centro de Investigación Príncipe Felipe, 46012 Valencia, Spain and Functional Genomics Node (INB), Centro de Investigación Príncipe Felipe, 46012 Valencia, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btu108DOI Listing
June 2014

Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia.

Fungal Genet Biol 2014 Apr 13;65:69-80. Epub 2014 Feb 13.

Department of Marine Sciences and Applied Biology, University of Alicante, P.O. Box. 99, E-03080 Alicante, Spain; Multidisciplinary Institute for Environmental Studies (MIES) "Ramón Margalef", University of Alicante, Alicante, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10871845140001
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http://dx.doi.org/10.1016/j.fgb.2014.02.002DOI Listing
April 2014

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Mol Genet Metab 2013 Sep-Oct;110(1-2):73-7. Epub 2013 May 3.

Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, 08028, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.021DOI Listing
March 2014

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Mol Vis 2013 7;19:2187-95. Epub 2013 Nov 7.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820429PMC
March 2014

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.

Mol Genet Genomic Med 2014 Mar 3;2(2):124-33. Epub 2013 Dec 3.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocio/Consejo Superior de Investigaciones Científicas/University of Seville Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville, Spain ; Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA) Seville, Spain.

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http://dx.doi.org/10.1002/mgg3.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960054PMC
March 2014

Genomics and transcriptomics in drug discovery.

Authors:
Joaquin Dopazo

Drug Discov Today 2014 Feb 15;19(2):126-32. Epub 2013 Jun 15.

Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain; Functional Genomics Node, (INB) at CIPF, Valencia 46012, Spain; CIBER de Enfermedades Raras (CIBERER), Valencia 46012, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2013.06.003DOI Listing
February 2014

Intrauterine growth restriction is associated with cardiac ultrastructural and gene expression changes related to the energetic metabolism in a rabbit model.

Am J Physiol Heart Circ Physiol 2013 Dec 4;305(12):H1752-60. Epub 2013 Oct 4.

Fetal and Perinatal Medicine Research Group, Institut d'Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain;

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http://dx.doi.org/10.1152/ajpheart.00514.2013DOI Listing
December 2013

Pathways systematically associated to Hirschsprung's disease.

Orphanet J Rare Dis 2013 Dec 2;8:187. Epub 2013 Dec 2.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Av, Manuel Siurot s/n, Seville, 41013, Spain.

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http://dx.doi.org/10.1186/1750-1172-8-187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879038PMC
December 2013

Grape antioxidant dietary fiber inhibits intestinal polyposis in ApcMin/+ mice: relation to cell cycle and immune response.

Carcinogenesis 2013 Aug 24;34(8):1881-8. Epub 2013 Apr 24.

Department of Biochemistry and Molecular Biology, IBUB, Faculty of Biology, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1093/carcin/bgt140DOI Listing
August 2013

Genome Maps, a new generation genome browser.

Nucleic Acids Res 2013 Jul 8;41(Web Server issue):W41-6. Epub 2013 Jun 8.

Department of Computational Genomics, Centro de Investigación Príncipe Felipe, Valencia 46012, Spain.

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http://dx.doi.org/10.1093/nar/gkt530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692043PMC
July 2013

Inferring the functional effect of gene expression changes in signaling pathways.

Nucleic Acids Res 2013 Jul 8;41(Web Server issue):W213-7. Epub 2013 Jun 8.

Department of Computational Genomics, Centro de Investigación Príncipe Felipe, Valencia 46012, Spain.

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http://dx.doi.org/10.1093/nar/gkt451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692130PMC
July 2013

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.

Exp Dermatol 2013 Jul;22(7):494-6

Melanoma Unit, Biochemistry and Molecular Genetics Service, Hospital Clinic of Barcelona, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1111/exd.12177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748792PMC
July 2013

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.

Orphanet J Rare Dis 2012 Dec 28;7:103. Epub 2012 Dec 28.

Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.

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http://dx.doi.org/10.1186/1750-1172-7-103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575329PMC
December 2012

Diversification of the expanded teleost-specific toll-like receptor family in Atlantic cod, Gadus morhua.

BMC Evol Biol 2012 Dec 29;12:256. Epub 2012 Dec 29.

Faculty of Biosciences and Aquaculture, University of Nordland, Bodø, Norway.

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http://dx.doi.org/10.1186/1471-2148-12-256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549756PMC
December 2012