Jorge Amigo

Jorge Amigo

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Jorge Amigo

Jorge Amigo

Publications by authors named "Jorge Amigo"

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Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.

Eur Arch Psychiatry Clin Neurosci 2018 Sep 18;268(6):585-592. Epub 2017 Apr 18.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain.

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http://dx.doi.org/10.1007/s00406-017-0799-5DOI Listing
September 2018

Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study.

Schizophr Res 2018 07 22;197:577-578. Epub 2017 Nov 22.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.schres.2017.11.021DOI Listing
July 2018

tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries.

SLAS Discov 2018 06 23;23(5):397-404. Epub 2018 Jan 23.

2 BioFarma, Universidad de Santiago de Compostela (USC), Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), A Coruña, Spain.

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http://dx.doi.org/10.1177/2472555217753840DOI Listing
June 2018

Whole Exome Sequencing Identifies New Host Genomic Susceptibility Factors in Empyema Caused by Streptococcus pneumoniae in Children: A Pilot Study.

Genes (Basel) 2018 May 3;9(5). Epub 2018 May 3.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.

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http://dx.doi.org/10.3390/genes9050240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977180PMC
May 2018

Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Int J Legal Med 2017 Sep 8;131(5):1211-1219. Epub 2017 Apr 8.

Xenética de Enfermidades Cardiovasculares e Oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1007/s00414-017-1583-9DOI Listing
September 2017

SparkBWA: Speeding Up the Alignment of High-Throughput DNA Sequencing Data.

PLoS One 2016 16;11(5):e0155461. Epub 2016 May 16.

Fundación Pública Galega de Medicina Xenómica (SERGAS), Santiago de Compostela, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0155461PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868289PMC
July 2017

Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.

Schizophr Res 2016 07 8;174(1-3):10-16. Epub 2016 Apr 8.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.schres.2016.03.029DOI Listing
July 2016

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

Mutat Res 2016 Feb-Mar;784-785:46-52. Epub 2016 Jan 6.

Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain; CIBER of Rare Diseases (CIBERER), Villarroel 170, 08036 Barcelona, Spain; IDIBAPS, Rosselló 149, 08036 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mrfmmm.2015.12.006DOI Listing
June 2016

Mitogenomes from The 1000 Genome Project reveal new Near Eastern features in present-day Tuscans.

PLoS One 2015 18;10(3):e0119242. Epub 2015 Mar 18.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, 15872, Galicia, Spain; Grupo de Investigación en Genética, Vacunas, Infecciones y Pediatría (GENVIP), Hospital Clínico Universitario and Universidade de Santiago de Compostela (USC), Galicia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119242PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365045PMC
March 2016

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

J Psychiatr Res 2015 Jul-Aug;66-67:38-44. Epub 2015 Apr 22.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago (CHUS), Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jpsychires.2015.04.013DOI Listing
February 2016

A genome-wide study of modern-day Tuscans: revisiting Herodotus's theory on the origin of the Etruscans.

PLoS One 2014 17;9(9):e105920. Epub 2014 Sep 17.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain; Grupo de Investigación en Genética, Vacunas, Infecciones y Pediatría (GENVIP), Hospital Clínico Universitario and Universidade de Santiago de Compostela (USC), Galicia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105920PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167696PMC
January 2016

BigBWA: approaching the Burrows-Wheeler aligner to Big Data technologies.

Bioinformatics 2015 Dec 30;31(24):4003-5. Epub 2015 Aug 30.

Genomics Medicine Group (GMX), Universidade de Santiago de Compostela, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btv506DOI Listing
December 2015

Completion of a worldwide reference panel of samples for an ancestry informative Indel assay.

Forensic Sci Int Genet 2015 Jul 25;17:75-80. Epub 2015 Mar 25.

Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.fsigen.2015.03.011DOI Listing
July 2015

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Appl Transl Genom 2015 Jun 26;5:33-6. Epub 2015 Jun 26.

Instituto de Investigación Sanitaria de Santiago-IDIS, Spain; Grupo de Medicina Xenómica, CIBERER, Universidade de Santiago de Compostela, Spain; Fundación Pública Galega de Medicina Xenómica, Spain.

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http://dx.doi.org/10.1016/j.atg.2015.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745395PMC
June 2015

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders.

Clin Chim Acta 2015 May 20;445:34-40. Epub 2015 Mar 20.

Instituto de Investigación Sanitaria (IDIS) de Santiago de Compostela, Servizo Galego de Saúde (SERGAS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.03.013DOI Listing
May 2015

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders.

Electrophoresis 2014 Nov 6;35(21-22):3111-6. Epub 2014 Aug 6.

Grupo de Xenética de enfermidades cardiovasculares e oftalmolóxicas, IDIS, RIC Santiago de Compostela, Spain; Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/elps.201400148DOI Listing
November 2014

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

Clin Chim Acta 2014 Nov 19;437:88-92. Epub 2014 Jul 19.

Xenética de enfermidades cardiovasculares e oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain; Grupo de Medicina Xenómica IDIS-USC, Fundación Pública Galega de Medicina Xenómica, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.07.016DOI Listing
November 2014

A generalized model to estimate the statistical power in mitochondrial disease studies involving 2×k tables.

PLoS One 2013 27;8(9):e73567. Epub 2013 Sep 27.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073567PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785462PMC
July 2014

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.

J Med Genet 2014 Jul 17;51(7):475-8. Epub 2014 Apr 17.

Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2013-102020DOI Listing
July 2014

ENGINES: exploring single nucleotide variation in entire human genomes.

BMC Bioinformatics 2011 Apr 19;12:105. Epub 2011 Apr 19.

Grupo de Medicina Xenómica, CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain.

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http://dx.doi.org/10.1186/1471-2105-12-105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107182PMC
April 2011

Adaptive selection of an incretin gene in Eurasian populations.

Genome Res 2011 Jan 26;21(1):21-32. Epub 2010 Oct 26.

Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital Linkou Medical Center, Chang Gung University, Kweishan, Taoyuan 333, Taiwan.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.110593.110
Publisher Site
http://dx.doi.org/10.1101/gr.110593.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012923PMC
January 2011

A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups.

PLoS One 2010 May 3;5(5):e10218. Epub 2010 May 3.

Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Universidade de Santiago de Compostela, Galicia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0010218PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862705PMC
May 2010

Genome-wide identification of hypoxia-inducible factor binding sites and target genes by a probabilistic model integrating transcription-profiling data and in silico binding site prediction.

Nucleic Acids Res 2010 Apr 8;38(7):2332-45. Epub 2010 Jan 8.

Department of Biochemistry, Universidad Autónoma de Madrid-Instituto de Investigaciones Biomédicas CSIC, Madrid, Spain.

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http://dx.doi.org/10.1093/nar/gkp1205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853119PMC
April 2010

Viability of in-house datamarting approaches for population genetics analysis of SNP genotypes.

BMC Bioinformatics 2009 Mar 19;10 Suppl 3:S5. Epub 2009 Mar 19.

Spanish National Genotyping Center (CeGen), Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain.

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http://dx.doi.org/10.1186/1471-2105-10-S3-S5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665053PMC
March 2009

SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access.

BMC Bioinformatics 2008 Oct 10;9:428. Epub 2008 Oct 10.

Spanish National Genotyping Center (CeGen), Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain.

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https://bmcbioinformatics.biomedcentral.com/articles/10.1186
Publisher Site
http://dx.doi.org/10.1186/1471-2105-9-428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576268PMC
October 2008

The SNPforID browser: an online tool for query and display of frequency data from the SNPforID project.

Int J Legal Med 2008 Sep 20;122(5):435-40. Epub 2008 May 20.

Spanish National Genotyping Center (CeGen) and Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1007/s00414-008-0233-7DOI Listing
September 2008