Jorge Amigo
Jorge Amigo
Fundación Pública Galega de Medicina Xenómica
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Genome-wide identification of hypoxia-inducible factor binding sites and target genes by a probabilistic model integrating transcription-profiling data and in silico binding …
A Ortiz-Barahona, D Villar, N Pescador, J Amigo, L Del Peso
Nucleic acids research 38 (7), 2332-2345, 2010
BigBWA: Approaching the Burrows-Wheeler Aligner to Big Data Technologies.
JM Abuín, JC Pichel, TF Pena, J Amigo
Bioinformatics, 2015
Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel
C Phillips, L Fernandez-Formoso, M Garcia-Magarinos, L Porras, ...
Forensic Science International: Genetics 5 (3), 155-169, 2011
SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access
J Amigo, A Salas, C Phillips, Á Carracedo
BMC bioinformatics 9 (1), 428, 2008
SparkBWA: speeding up the alignment of high-throughput DNA sequencing data
JM Abuín, JC Pichel, TF Pena, J Amigo
PloS one 11 (5), e0155461, 2016
The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome
ML Catelli, V Álvarez-Iglesias, A Gómez-Carballa, A Mosquera-Miguel, ...
BMC genetics 12 (1), 77, 2011
SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data
C Morcillo-Suarez, J Alegre, R Sangros, E Gazave, R De Cid, R Milne, ...
Bioinformatics 24 (14), 1643-1644, 2008
The SNPforID browser: an online tool for query and display of frequency data from the SNPforID project
J Amigo, C Phillips, M Lareu, Á Carracedo
International journal of legal medicine 122 (5), 435-440, 2008
Genetic analysis of arrhythmogenic diseases in the era of NGS: the complexity of clinical decision-making in Brugada syndrome
C Allegue, M Coll, J Mates, O Campuzano, A Iglesias, B Sobrino, M Brion, ...
PloS one 10 (7), e0133037, 2015
Tetra-allelic SNPs: informative forensic markers compiled from public whole-genome sequence data
C Phillips, J Amigo, Á Carracedo, MV Lareu
Forensic Science International: Genetics 19, 100-106, 2015
Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems
M de la Puente, C Phillips, C Xavier, J Amigo, A Carracedo, W Parson, ...
Forensic Science International: Genetics 45, 102213, 2020
Completion of a worldwide reference panel of samples for an ancestry informative Indel assay
C Santos, C Phillips, F Oldoni, J Amigo, M Fondevila, R Pereira, ...
Forensic Science International: Genetics 17, 75-80, 2015
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
E Balboa-Beltran, MJ Fernández-Seara, A Pérez-Muñuzuri, R Lago, ...
Journal of Medical Genetics 51 (7), 475-478, 2014
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
A Fernández-Marmiesse, M Morey, M Pineda, J Eiris, ML Couce, ...
Orphanet journal of rare diseases 9 (1), 59, 2014
ENGINES: exploring single nucleotide variation in entire human genomes
J Amigo, A Salas, C Phillips
BMC bioinformatics 12 (1), 105, 2011
pop. STR—an online population frequency browser for established and new forensic STRs
J Amigo, C Phillips, T Salas, LF Formoso, Á Carracedo, M Lareu
Forensic Science International: Genetics Supplement Series 2 (1), 361-362, 2009
A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel
C Phillips, J Amigo, AO Tillmar, MA Peck, M de la Puente, J Ruiz-Ramírez, ...
Forensic Science International: Genetics 46, 102232, 2020
CSVS, a crowdsourcing database of the Spanish population genetic variability
M Peña-Chilet, G Roldán, J Perez-Florido, FM Ortuño, R Carmona, ...
Nucleic Acids Research 49 (D1), D1130-D1137, 2021
Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders
M Brion, A Blanco‐Verea, B Sobrino, M Santori, R Gil, E Ramos‐Luis, ...
Electrophoresis 35 (21-22), 3111-3116, 2014
Comprehensive molecular testing in patients with high functioning autism spectrum disorder
MI Alvarez-Mora, RC Escalona, OP Navarro, I Madrigal, I Quintela, ...
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 784, 46-52, 2016
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