Alfonso Buil

Alfonso Buil

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Alfonso Buil

Publications by authors named "Alfonso Buil"

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Human Disease Variation in the Light of Population Genomics.

Cell 2019 Mar;177(1):115-131

Department of Zoology, University of Cambridge, Cambridge CB2 3EJ, UK; Lundbeck Foundation GeoGenetics Centre, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.01.052DOI Listing
March 2019

diffuStats: an R package to compute diffusion-based scores on biological networks.

Bioinformatics 2018 02;34(3):533-534

B2SLab, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, CIBER-BBN, Barcelona 08028, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btx632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860365PMC
February 2018

Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort.

Hum Mol Genet 2018 02;27(4):732-741

Department of Twin Research and Genetic Epidemiology, King's College London, St Thomas' Campus, SE1 7EH London, UK.

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http://dx.doi.org/10.1093/hmg/ddx424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886097PMC
February 2018

Time-dependent genetic effects on gene expression implicate aging processes.

Genome Res 2017 04 16;27(4):545-552. Epub 2017 Mar 16.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1101/gr.207688.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378173PMC
April 2017

Tensor decomposition for multiple-tissue gene expression experiments.

Nat Genet 2016 09 1;48(9):1094-100. Epub 2016 Aug 1.

Department of Statistics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.3624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010142PMC
September 2016

solarius: an R interface to SOLAR for variance component analysis in pedigrees.

Bioinformatics 2016 06 15;32(12):1901-2. Epub 2016 Feb 15.

Unitat De Genòmica De Malalties Complexes, Institut D'investigació Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btw080DOI Listing
June 2016

Fast and efficient QTL mapper for thousands of molecular phenotypes.

Bioinformatics 2016 05 26;32(10):1479-85. Epub 2015 Dec 26.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, 1211, Switzerland Swiss Institute of Bioinformatics, Geneva, 1211, Switzerland and.

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http://dx.doi.org/10.1093/bioinformatics/btv722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866519PMC
May 2016

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

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http://search.proquest.com/openview/9583d4c1af74c01602d422b2
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http://www.nature.com/doifinder/10.1038/ng.3482
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http://dx.doi.org/10.1038/ng.3482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731307PMC
February 2016

Quantitative variability of 342 plasma proteins in a human twin population.

Mol Syst Biol 2015 Feb 4;11(1):786. Epub 2015 Feb 4.

Department of Biology, Institute of Molecular Systems Biology, ETH Zurich, Zurich, Switzerland Faculty of Science, University of Zurich, Zurich, Switzerland

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358658PMC
http://dx.doi.org/10.15252/msb.20145728DOI Listing
February 2015

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins.

Nat Genet 2015 Jan 1;47(1):88-91. Epub 2014 Dec 1.

1] Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. [2] Institute of Genetics and Genomics in Geneva, University of Geneva, Geneva, Switzerland. [3] Swiss Institute of Bioinformatics, Geneva, Switzerland.

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http://dx.doi.org/10.1038/ng.3162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643454PMC
January 2015

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

PLoS Genet 2015 Jan 29;11(1):e1004958. Epub 2015 Jan 29.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence in Genomic Medicine Research, KingAbdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1371/journal.pgen.1004958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310612PMC
January 2015

Gene age predicts the strength of purifying selection acting on gene expression variation in humans.

Am J Hum Genet 2014 Dec;95(6):660-74

Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, 1211 Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259975PMC
December 2014

A genomewide study of body mass index and its genetic correlation with thromboembolic risk. Results from the GAIT project.

Thromb Haemost 2014 Nov 14;112(5):1036-43. Epub 2014 Aug 14.

Juan Carlos Souto, MD, PhD, Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Sant Antoni Maria Claret 167, 08025, Barcelona, Spain, Tel.: +34 93 5537151, Fax: +34 93 5537153, E-mail:

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http://dx.doi.org/10.1160/TH14-03-0275DOI Listing
November 2014

A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.

Mitochondrion 2014 Sep 18;18:34-40. Epub 2014 Sep 18.

Unit of Genomic of Complex Diseases, Research Institute of Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2014.09.004DOI Listing
September 2014

Cis and trans effects of human genomic variants on gene expression.

PLoS Genet 2014 Jul 10;10(7):e1004461. Epub 2014 Jul 10.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence for Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1371/journal.pgen.1004461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091791PMC
July 2014

Passive and active DNA methylation and the interplay with genetic variation in gene regulation.

Elife 2013 Jun 4;2:e00523. Epub 2013 Jun 4.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, Geneva, Switzerland [corrected]; Swiss Institute of Bioinformatics, Geneva, Switzerland.

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http://dx.doi.org/10.7554/eLife.00523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673336PMC
June 2013

Genetic determinants of 5-lipoxygenase pathway in a Spanish population and their relationship with cardiovascular risk.

Atherosclerosis 2012 Sep 13;224(1):129-35. Epub 2012 Jul 13.

Laboratory of Angiology, Vascular Biology and Inflammation, Institute of Biomedical Research (II-B Sant Pau), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.atherosclerosis.2012.07.001DOI Listing
September 2012

A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI Level and activated partial thromboplastin time.

Arterioscler Thromb Vasc Biol 2012 Aug 14;32(8):2008-16. Epub 2012 Jun 14.

Department of Medicine, Cardiovascular Genetics and Genomics Group, Atherosclerosis Research Unit, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.

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http://dx.doi.org/10.1161/ATVBAHA.112.248492DOI Listing
August 2012

MISS: a non-linear methodology based on mutual information for genetic association studies in both population and sib-pairs analysis.

Bioinformatics 2010 Aug 18;26(15):1811-8. Epub 2010 Jun 18.

Institut de Bioenginyeria de Catalunya, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Pau Gargallo 5, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1093/bioinformatics/btq273DOI Listing
August 2010

Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

Hum Mol Genet 2010 Feb 23;19(3):517-25. Epub 2009 Nov 23.

Departament de Ciències Experimentals i de la Salut, Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Spain.

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http://dx.doi.org/10.1093/hmg/ddp517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2798724PMC
February 2010

Searching for master regulators of transcription in a human gene expression data set.

BMC Proc 2007 18;1 Suppl 1:S81. Epub 2007 Dec 18.

Unitat de Bioinformatica i Malalties Complexes, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, 08025 Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367599PMC
http://dx.doi.org/10.1186/1753-6561-1-s1-s81DOI Listing
December 2009

A new gene-based association test for genome-wide association studies.

BMC Proc 2009 Dec 15;3 Suppl 7:S130. Epub 2009 Dec 15.

Unitat de Genomica de Malalties Complexes, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, 08025, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795904PMC
http://dx.doi.org/10.1186/1753-6561-3-s7-s130DOI Listing
December 2009

Heritability of plasma concentrations of activated protein C in a Spanish population.

Blood Coagul Fibrinolysis 2009 Jan;20(1):17-21

Thrombosis and Hemostasia Unit, Hematology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1097/MBC.0b013e3282f9ae25DOI Listing
January 2009

Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels.

Eur J Hum Genet 2008 Nov 18;16(11):1372-9. Epub 2008 Jun 18.

Department of Hematology, Haemostasis and Thrombosis Unit, Hospital de la Santa Creu i Sant Pau, C/Sant Antoni Maria Claret 167, Barcelona, Spain.

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http://www.nature.com/articles/ejhg2008114
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http://dx.doi.org/10.1038/ejhg.2008.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749722PMC
November 2008

A genome-wide exploration suggests an oligogenic model of inheritance for the TAFI activity and its antigen levels.

Hum Genet 2008 Aug 18;124(1):81-8. Epub 2008 Jun 18.

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, C/Sant Antoni M.Claret 167. 08025, Barcelona, Spain.

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http://dx.doi.org/10.1007/s00439-008-0527-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592198PMC
August 2008

Clustering of individuals given SNPs similarity based on normalized mutual information: F7 SNPs in the GAIT sample.

Conf Proc IEEE Eng Med Biol Soc 2007 ;2007:123-6

Centre de Recerca en Enginyeria Biomedica, Dept. d'Eng. Sistemes i Automatica Industrial, Universitat Politecnica de Catalunya, Pau Gargallo, 5, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1109/IEMBS.2007.4352238DOI Listing
March 2008

Genomewide linkage analysis of soluble transferrin receptor plasma levels.

Ann Hematol 2006 Jan 23;85(1):25-8. Epub 2005 Aug 23.

Hematology Department, Hospital de Sant Pau, Avda Padre Claret 167, Barcelona, 08025, Spain.

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http://dx.doi.org/10.1007/s00277-005-1092-7DOI Listing
January 2006

Smoothing of the bivariate LOD score for non-normal quantitative traits.

BMC Genet 2005 Dec 30;6 Suppl 1:S111. Epub 2005 Dec 30.

Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas, USA.

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http://dx.doi.org/10.1186/1471-2156-6-S1-S111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1866827PMC
December 2005

A genome search for genetic determinants that influence plasma fibrinogen levels.

Arterioscler Thromb Vasc Biol 2005 Jun 10;25(6):1287-92. Epub 2005 Mar 10.

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1161/01.ATV.0000161927.38739.6fDOI Listing
June 2005

Protein C levels are regulated by a quantitative trait locus on chromosome 16: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project.

Arterioscler Thromb Vasc Biol 2004 Jul 13;24(7):1321-5. Epub 2004 May 13.

Unitat d'Hemostàsia i Trombosi, Departament d'Hematologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1161/01.ATV.0000132408.13064.09DOI Listing
July 2004

Genetic and environmental factors influencing the human factor H plasma levels.

Immunogenetics 2004 May 30;56(2):77-82. Epub 2004 Apr 30.

Departamento de Inmunología, Laboratorio 143, Centro de Investigaciones Biológicas (CSIC), C/ Ramiro de Maeztu N masculine 9, 28040, Madrid, Spain.

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http://dx.doi.org/10.1007/s00251-004-0660-7DOI Listing
May 2004

Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project.

Thromb Haemost 2003 Mar;89(3):468-74

Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona. Spain.

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March 2003

Genetic determinants of variation in the plasma levels of the C4b-binding protein (C4BP) in Spanish families.

Immunogenetics 2003 Mar 22;54(12):862-6. Epub 2003 Feb 22.

Departamento de Inmunología, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid, Spain.

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http://dx.doi.org/10.1007/s00251-003-0537-1DOI Listing
March 2003