Publications

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2017
Hidalgo MR, Cubuk C, Amadoz A, Salavert F, Carbonell-Caballero J, Dopazo J. High throughput estimation of functional cell activities reveals disease mechanisms and predicts relevant clinical outcomes. Oncotarget. 2017;8(3):5160-5178. doi:10.18632/oncotarget.14107.
Moschen S, Di Rienzo JA, Higgins J, et al. Integration of transcriptomic and metabolic data reveals hub transcription factors involved in drought stress response in sunflower (Helianthus annuus L.). Plant Mol Biol. 2017;94(4-5):549-564. doi:10.1007/s11103-017-0625-5.
Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.
Olanda R, Pérez M, Orduña JM, Tárraga J, Dopazo J. A new parallel pipeline for DNA methylation analysis of long reads datasets. BMC bioinformatics. 2017;18:161. doi:10.1186/s12859-017-1574-3.
Carbonell-Caballero J, Amadoz A, Alonso R, et al. Reference genome assessment from a population scale perspective: an accurate profile of variability and noise. Bioinformatics. 2017;33(22):3511-3517. doi:10.1093/bioinformatics/btx482.
Juanes JM, Gallego A, Tárraga J, et al. VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy. BMC Bioinformatics. 2017;18(1):421. doi:10.1186/s12859-017-1837-z.
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biology. 2017;18(1). doi:10.1186/s13059-017-1174-6.
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 2017;18:48. doi:10.1186/s13059-017-1174-6.
2016
Dopazo J, Amadoz A, Bleda M, et al. 267 Spanish exomes reveal population-specific differences in disease-related genetic variation. Molecular biology and evolution. 2016. doi:10.1093/molbev/msw005.
Salavert F, Hidago MR, Amadoz A, et al. Actionable pathways: interactive discovery of therapeutic targets using signaling pathway models. Nucleic acids research. 2016. doi:10.1093/nar/gkw369.
Lupo V, Garcia-Garcia F, Sancho P, et al. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. The Journal of molecular diagnostics : JMD. 2016. doi:10.1016/j.jmoldx.2015.10.005.
Sanghez V, Cubuk C, Sebastián-Leon P, et al. Chronic subordination stress selectively downregulates the insulin signaling pathway in liver and skeletal muscle but not in adipose tissue of male mice. Stress (Amsterdam, Netherlands). 2016:1-11. doi:10.3109/10253890.2016.1151491.
Prieto J, León M, Ponsoda X, et al. Dysfunctional mitochondrial fission impairs cell reprogramming. Cell Cycle. 2016;15(23):3240-3250. doi:10.1080/15384101.2016.1241930.
Lagarde J, Uszczynska-Ratajczak B, Santoyo-López J, et al. Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq). Nature Communications. 2016;7(1). doi:10.1038/ncomms12339.
Lagarde J, Uszczynska-Ratajczak B, Santoyo-López J, et al. Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq). Nature communications. 2016;7:12339. doi:10.1038/ncomms12339.
Medina I, Tárraga J, Martínez H, et al. Highly sensitive and ultrafast read mapping for RNA-seq analysis. DNA Res. 2016;23(2):93-100. doi:10.1093/dnares/dsv039.
Tárraga J, Gallego A, Arnau V, Medina I, Dopazo J. HPG pore: an efficient and scalable framework for nanopore sequencing data. BMC bioinformatics. 2016;17:107. doi:10.1186/s12859-016-0966-0.
Tárraga J, Gallego A, Arnau V, Medina I, Dopazo J. HPG pore: an efficient and scalable framework for nanopore sequencing data. BMC Bioinformatics. 2016;17(1). doi:10.1186/s12859-016-0966-0.
Sanchez-Mut JV, Heyn H, Vidal E, et al. Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns. Transl Psychiatry. 2016;6:e718. doi:10.1038/tp.2015.214.
Corton M, Avila-Fernández A, Campello L, et al. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:35370. doi:10.1038/srep35370.
Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.
Garcia-Garcia F, Panadero J, Dopazo J, Montaner D. Integrated gene set analysis for microRNA studies. Bioinformatics. 2016;32(18):2809-16. doi:10.1093/bioinformatics/btw334.
Moschen S, Luoni SBengoa, Di Rienzo JA, et al. Integrating transcriptomic and metabolomic analysis to understand natural leaf senescence in sunflower. Plant Biotechnol J. 2016;14(2):719-34. doi:10.1111/pbi.12422.
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.
Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.