PUBLICATIONS

Título: RegulonDB version 9.0: high-level integration of gene regulation, coexpression, motif clustering and beyond (2016)

Autores: Socorro Gama-Castro,1,† Heladia Salgado,1,† Alberto Santos-Zavaleta,1 Daniela Ledezma-Tejeida,1 Luis Muñiz-Rascado,1 Jair Santiago García-Sotelo,1 Kevin Alquicira-Hernández,1 Irma Martínez-Flores,1 Lucia Pannier,1 Jaime Abraham Castro-Mondragón,2 Alejandra Medina-Rivera,3 Hilda Solano-Lira,1 César Bonavides-Martínez,1 Ernesto Pérez-Rueda,4 Shirley Alquicira-Hernández,1 Liliana Porrón-Sotelo,1 Alejandra López-Fuentes,1 Anastasia Hernández-Koutoucheva,1 Víctor Del Moral-Chávez,1 Fabio Rinaldi,5 and Julio Collado-Vides1,*
Afiliaciones: 1Programa de Genómica Computacional, Centro de Ciencias Genómicas, Universidad Nacional Autónoma de México, A.P. 565-A, Cuernavaca, Morelos 62100, Mexico 2UMR_S 1090 TAGC, INSERM, Marseille, 13000 France 3Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Boulevard Juriquilla 3001, Juriquilla 76230, Santiago de Querétaro, QRO, Mexico 4Departamento de Microbiologia Molecular, IBT, Universidad Nacional Autónoma de México, Cuernavaca, Morelos 62100, Mexico 5Institute of Computational Linguistics, University of Zurich, Binzmühlestrasse 14, CH 8050 Zurich, Switzerland *To whom correspondence should be addressed. Tel: +52-777-3132063; Fax: +52-777-317-5581; Email: xm.manu.gcc@odalloc †These authors contributed equally to the paper as first authors.
Journal: Nucleic Acids Research, Volumen 44, Páginas 133-143
DOI: 10.1093/nar/gkv1156

Título: The limits and potential of paleogenomic techniques for reconstructing grapevine domestication (2016)

Autores: Nathan Wales a, b, *, Jazmín Ramos Madrigal a, Enrico Cappellini a, Aldo Carmona Baez a, c, Jose Alfredo Samaniego Castruita a, J. Alberto Romero-Navarro a,d, Christian Carøe a, e, María C. Avila-Arcos a, f, Fernando Penaloza ~ a, c, g, J.Víctor Moreno-Mayar a, Boris Gasparyan h, Diana Zardaryan h, Tamara Bagoyan h, Alexia Smith b, Ron Pinhasi i, Giovanna Bosi j, Girolamo Fiorentino k, Anna Maria Grasso k, Alessandra Celant l, Guy Bar-Oz m, Yotam Tepper m, Allan Hall n, Simone Scalabrin o, Mara Miculan p, Michele Morgante p, Gabriele Di Gaspero p, M. Thomas P. Gilbert a, q, r
Afiliaciones: a Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Denmark b Department of Anthropology, University of Connecticut, Storrs, CT, USA c Undergraduate Program on Genomic Sciences, National Autonomous University of Mexico, 62210 Cuernavaca, Mexico d School of Integrative Plant Sciences, Section of Plant Breeding and Genetics, Cornell University, Ithaca, NY, USA e Center for Biological Sequence Analysis, Technical University of Denmark, Kgs. Lyngby, Denmark f International Laboratory for Human Genome Research, National Autonomous University of México, 76230 Querétaro, Qro., México g Leibniz Institute for Zoo and Wildlife Research, 10315 Berlin, Germany h Institute of Archaeology and Ethnology, National Academy of Sciences, Yerevan, Armenia i School of Archaeology and Earth Institute, University College Dublin, Dublin 4, Ireland j Laboratorio di Palinologia e Paleobotanica, Dipartimento di Scienze della Vita, Universita di Modena e Reggio Emilia, Italy k Laboratory of Archaeobotany and Palaeoecology, University of Salento, Italy l Dipartmento di Bilogia Ambientale, “Sapienza” University of Rome, Italy m Zinman Institute of Archaeology, University of Haifa, Haifa, Mount Carmel 3498837, Israel n Department of Archaeology, University of York, York, UK o IGA Technology Services, Udine, Italy p Istituto di Genomica Applicata (IGA), Udine, Italy q Trace and Environmental DNA Laboratory, Department of Environment and Agriculture, Curtin University, Perth, Western Australia, Australia r NTNU University Museum, N-7491 Trondheim, Norway
Journal: Journal of Archaeological Science, Volumen 72, Páginas 57-70
DOI: 10.1016/j.jas.2016.05.014

Título: Germline MC1R status influences somatic mutation burden in melanoma. (2016)

Autores: Carla Daniela Robles-Espinoza1,2,*, Nicola D. Roberts1,3,*, Shuyang Chen4,*, Finbarr P. Leacy5,6, Ludmil B. Alexandrov3, Natapol Pornputtapong7, Ruth Halaban8, Michael Krauthammer7,9, Rutao Cui4, D. Timothy Bishop10,** & David J. Adams1,**
Afiliaciones: 1 Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK. 2 Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Boulevard Juriquilla 3001, Santiago de Querétaro 76230, México. 3 The Cancer Genome Project, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK. 4Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine. Boston, Massachusetts 02118, USA. 5 MRC Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK. 6Division of Population Health Sciences, Royal College of Surgeons in Ireland, Lower Mercer Street, Dublin 2, Ireland. 7Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06519, USA. 8Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06519, USA. 9 Program in Computational Biology and Bioinformatics, Yale University School of Medicine, New Haven, Connecticut 06519, USA. 10 Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, LS9 7TF, UK. * These authors contributed equally to this work. ** These authors jointly supervised the work. Correspondence and requests for materials should be addressed to D.J.A. (email: da1@sanger.ac.uk).
Journal: NATURE COMMUNICATIONS, Páginas 1-7
DOI: DOI: 10.1038/ncomms12064

Título: A Genome-Wide Association Study for Regulatorsof Micronucleus Formation in Mice (2016)

Autores: Rebecca E. McIntyre,* Jérôme Nicod,† Carla Daniela Robles-Espinoza,*,§§ John Maciejowski,‡ Na Cai,† Jennifer Hill,§ Ruth Verstraten,* Vivek Iyer,* Alistair G. Rust,*, ** Gabriel Balmus,*,†† Richard Mott,†,‡‡ Jonathan Flint,† and David J. Adams*,1
Afiliaciones: *Experimental Cancer Genetics and §Microbial Pathogenesis, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK, †Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK, ‡Laboratory for Cell Biology and Genetics, The Rockefeller University, New York, New York 10065, **Tumour Profiling Unit, The Institute of Cancer Research, London SW3 6JB, UK, ††The Wellcome Trust/Cancer Research UK Gurdon Institute, University of Cambridge, CB2 1QN, UK, and ‡‡UCL Genetics Institute, University College London, WC1E 6BT, UK, §§Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Boulevard Juriquilla 3001, Santiago de Querétaro 76230, Mexico
Journal: Genes/Genomes/Genetics, Volumen 6, Páginas 2343-2354
DOI: 10.1534/g3.116.030767

Título: Single nucleotide polymorphisms in an intergenic chromosome 2q región associated with tissue factor pathway inhibitor plasma levels and venous thromboembolism (2016)

Autores: J. Dennis,* V. Truong,* D. A€IS SI , † ‡ § A. Medina-Rivera, ¶ ** S. Blankenberg, † † M. Germain, † ‡ § M. Lemire, ‡ ‡ L. Antounians,** § § M. Civelek, ¶ ¶ R. Schnabel, † † P. Wells, *** M. D. Wilson,** § § P.-E. Morange, †††‡‡‡ §§§ D.-A. Treg O U€ET † ‡ § and F. G agnon *
Afiliaciones: *Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada; †Sorbonne Universites, UPMC Univ. Paris 06; ‡INSERM, UMR_S 1166; §ICAN Institute for Cardiometabolism and Nutrition, Paris, France; ¶Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Santiago de Querétaro, México; **Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; ††Department of General and Interventional Cardiology, University of Hamburg, Hamburg, Germany; ‡‡Ontario Institute for Cancer Research; §§Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada; ¶¶Center for Public Health Genomics, Department of Biomedical Engineering, University of Virginia, Charlottesville, VA, USA; ***Ottawa Hospital Research Institute, Ottawa, Ontario, Canada; †††INSERM, UMR_S 1062; ‡‡‡Inra, UMR_INRA 1260; and §§§Aix Marseille Universite, Marseille, France
Journal: Journal of Thrombosis and Haemostasis, Pàginas 1960-1970
DOI: 10.1111/jth.13431

Título: Topoisomerase II beta interacts with cohesin and CTCFat topological domain borders. (2016)

Autores: Liis Uusküla-Reimand†, Huayun Hou†, Payman Samavarchi-Tehrani, Matteo Vietri Rudan, Minggao Liang, Alejandra Medina-Rivera, Hisham Mohammed, Dominic Schmidt, Petra Schwalie, Edwin J. Young, Jüri Reimand, Suzana Hadjur, Anne-Claude Gingras and Mich
Afiliaciones: 1 Genetics and Genome Biology Program, SickKids Research Institute, Toronto, ON, Canada. 2 Department of Gene Technology, Tallinn University of Technology, Tallinn, Estonia. 3 Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. 4 Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada. 5 Research Department of Cancer Uusküla-Reimand et al. Genome Biology (2016) 17:182 Page 19 of 22 Biology, Cancer Institute, University College London, London, UK. 6 Cancer Research UK, Cambridge Institute, University of Cambridge, Cambridge, UK. 7 European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK. 8 Ontario Institute for Cancer Research, Toronto, ON, Canada. 9 Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada. 10Present address: The Babraham Institute, Cambridge, UK. 11Present address: Syncona Partners LLP, London, UK. 12Present address: Laboratory of Systems Biology and Genetics, Lausanne, Switzerland. 13Present address: International Laboratory for Research in Human Genomics, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, Mexico.
Journal: Genome Biology – Volume – Pàginas 1-22
DOI: 10.1186/s13059-016-1043-8

Título: A population-based analysis of germline BAP1 mutations in melanoma. (2017)

Autores: Sally J. O’Shea1,†, Carla Daniela Robles-Espinoza2,3,†, Lauren McLellan4,†, Jeanine Harrigan4 , Xavier Jacq4, James Hewinson2, Vivek Iyer2, Will Merchant5, Faye Elliott1, Mark Harland1, D. Timothy Bishop1, Julia A. Newton-Bishop1 and David J. Adams2,*
Afiliaciones: 1Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK, 2 Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK, 3 Laboratorio Internacional de Investigacion sobre el Genoma Humano, Universidad Nacional Aut onoma de Me´xico, Campus Juriquilla, Boulevard Juriquilla 3001, Juriquilla 76230, Santiago de Quere´taro, Qro, Mexico, 4 MISSION Therapeutics, Babraham Research Campus. Moneta (Building 280). Cambridge, UK and 5 Histopathology Department, Bexley Wing, St. James’s University Hospital, Leeds, UK
Journal: Human Molecular Genetics, Volumen 26, Páginas 717-728
DOI: 10.1093/hmg/ddw403

Título: Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations. (2017)

Autores: Jonathan S. Brammeld1, Mia Petljak1, Inigo Martincorena1, Steven P. Williams1, Luz Garcia Alonso2, Alba Dalmases3, Beatriz Bellosillo3, Carla Daniela Robles-Espinoza4, Stacey Price1, Syd Barthorpe1, Patrick Tarpey1, Constantine Alifrangis1, Graham Bignell1, Joana Vidal5, Jamie Young1, Lucy Stebbings1, Kathryn Beal1, Michael R. Stratton1, Julio Saez-Rodriguez2,6, Mathew Garnett1, Clara Montagut5, Francesco Iorio2,7 and Ultan McDermott1,7
Afiliaciones: 1Wellcome Trust Sanger Institute, Hinxton CB10 1SA, United Kingdom; 2European Molecular Biology Laboratory – European Bioinformatics Institute, Cambridge CB10 1SA, United Kingdom; 3Pathology Department, Hospital del Mar, 08003 Barcelona, Spain; 4Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Santiago de Querétaro 76230, Mexico; 5Cancer Research Program, FIMIM and Medical Oncology Department, Hospital del Mar, 08003 Barcelona, Spain; 6RWTH Aachen University Hospital, 52062 Aachen, Germany
Journal: Genome Research, Volumen 27, Páginas 613-625
DOI: 10.1101/gr.213546.116

Título: Genomic analysis and clinical management of adolescent cutaneous melanoma (2017)

Autores: Roy Rabbie1,2,* , Mamunur Rashid1,*, Ana M. Arance3, Marcelo Sanchez4, Gemma Tell-Marti5,6,Miriam Potrony7, Carles Conill8, Rem co van Doorn9, Stefan Dentro1, Nelleke A. Gruis9, Pippa Corrie2,Vivek Iyer1, Carla Daniela Robles-Espinoza1,10, Joan A. Puig-Butille6,11, Susana Puig5,6,* andDavid J. Adams1,*
Afiliaciones: Genomic analysis and clinical management ofadolescent cutaneous melanomaRoy Rabbie1,2,* , Mamunur Rashid1,*, Ana M. Arance3, Marcelo Sanchez4, Gemma Tell-Marti5,6,Miriam Potrony7, Carles Conill8, Rem co van Doorn9, Stefan Dentro1, Nelleke A. Gruis9, Pippa Corrie2,Vivek Iyer1, Carla Daniela Robles Espinoza1,10, Joan A. Puig-Butille6,11, Susana Puig5,6,* andDavid J. Adams1,*1 Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK2 Department of Oncology, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge,UK 3 Department of Medical Oncology and Targeted Therapeutics in Solid Tumors Group (IDIBAPS), HospitalClınic de Barcelona, Barcelona, Spain 4 Melanoma Unit, Radiology Service, Hospital Clınic, IDIBAPS, Universityof Barcelona, Barcelona, Spain 5 Melanoma Unit, Department of Dermatology, Hospital Clınic de Barcelona,Barcelona, Spain 6 Centre of Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain7 Melanoma Unit, Department of Dermatology, Hospital Clınic de Barcelona, IDIBAPS, Barcelona University,Barcelona, Spain 8 Melanoma Unit, Radiotherapy Oncology, Hospital Clınic, IDI BAPS, Barcelona University,Barcelona, Spain 9 Leiden University Medical Centre, Leiden, The Netherlands 10 Laboratorio Internacional deInvestigacion sobre el Genoma Humano, Universidad Nacional Autonoma de Mexico, Santiago de Queretaro ,Mexico 11 Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clinic de Barcelona,IDIBAPS, Barcelona, Spain
Journal: Pigment Cell Melanoma , Volumen 30, Páginas 307-316

DOI: 10.1111/pcmr.12574

Título: Leveraging cell type-specific regulatory regions to detect SNPs associated with tissue factor pathway inhibitor plasma levels (2017)

Autores: Dennis J1, Medina-Rivera A2,3, Truong V1, Antounians L2,4, Zwingerman N1, Carrasco G3, Strug L2,5, Wells P6, Trégouët DA7,8,9, Morange PE10,11,12, Wilson MD2,4,13, Gagnon F1.
Afiliaciones: Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. 2 Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto, Canada. 3 Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, México. 4 Department of Molecular Genetics, University of Toronto, Toronto, Canada. 5 Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. 6 Ottawa Hospital Research Institute, Ottawa, Canada. 7 Sorbonne Universités, UPMC Univ Paris 06, Paris, France. 8 INSERM, UMR_S 1166, Paris, France. 9 ICAN Institute for Cardiometabolism and Nutrition, Paris, France. 10 INSERM, UMR_S 1062, Marseille, France. 11 Inra, UMR_INRA 1260, Marseille, France. 12 Aix Marseille Université, Marseille, France. 13 Heart & Stroke Richard Lewar Centre of Excellence in Cardiovascular Research, Toronto, Canada.
Journal: Genetic.Epidemiology, Páginas 1-12
DOI: 10.1002/gepi.22049

Título: Melanoma: a global perspective (2017)

Autores: Raul Ossio,    Rodrigo Roldán-Marín, Héctor Martínez-Said, David J. Adams & Carla Daniela Robles-Espinoza
Afiliaciones: Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Blvd Juriquilla 3001, Santiago de Querétaro 76230, México.
Raul Ossio & Carla Daniela Robles-Espinoza
Dermato-oncology Clinic, School of Medicine, Research Division, Universidad Nacional Autónoma de México, Av. Universidad 3000, Coyoacán, Copilco Universidad, 04510 Mexico City, México.
Rodrigo Roldán-Marín
Melanoma Clinic, Instituto Nacional de Cancerología (México), Av. San Fernando #22, Col. Sección XVI, Tlalpan, Mexico D.F., 14080, México.
Héctor Martínez-Said
Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
David J. Adams & Carla Daniela Robles-Espinoza
Journal: Nature Reviews Cancer
DOI: doi:10.1038/nrc.2017.43

Título: Genome-wide characterization of mammalian promoters with distal enhancer functions

Autores: Dao LTM, Galindo-Albarrán AO, Castro-Mondragon JA, Andrieu-Soler C, Medina-Rivera A, Souaid C, Charbonnier G, Griffon A, Vanhille L, Stephen T, Alomairi J, Martin D, Torres M, Fernandez N, Soler E, van Helden J, Puthier D, Spicuglia S.
Afiliaciones: Aix-Marseille University, INSERM, TAGC, UMR 1090, Marseille, France. 2
INSERM, UMR 967, CEA/DRF/iRCM, Laboratory of Molecular Hematopoiesis, Université Paris-Diderot, Université Paris-Saclay, Fontenay-aux-Roses, France. 3 Labex GR-Ex, Université Sorbonne Paris Cité, Paris, France. 4 IGMM, CNRS, Université de Montpellier, Montpellier, France. 5 Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Mexico.
Journal: Nat Genet. 2017 Jun 5.

Doi: 10.1038/ng.3884.

Título: Sex-specific effect of CPB2 Ala147Thr but not Thr325Ile variants on the risk of venous thrombosis: A comprehensive meta-analysis.

Autores: Zwingerman N, Medina-Rivera A, Kassam I, Wilson MD, Morange PE, Trégouët DA, Gagnon F.
Afiliaciones: Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. 2 Genetics and Genome Biology Program, SickKids Research Institute, Toronto, Canada. 3 Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Santiago de Querétaro, Querétaro, Mexico. 4 Department of Molecular Genetics, University of Toronto, Toronto, Canada. 5 Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche (UMR) en Santé 1062, Nutrition Obesity and Risk of Thrombosis, Marseille, France. 6 Faculté de Médecine, Aix Marseille Université, Marseille, France. 7 Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR_S) 1166, Paris, France. 8 Institute for Cardiometabolism and Nutrition, Paris, France. 9 Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ Paris 06), UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris, France.
Journal: PLoS One. 2017 May 26;12(5):e0177768.
Doi: 10.1371/journal.pone.0177768

Título: Dynamic regulation of VEGF-inducible genes by an ERK-ERG-p300 transcriptional network.

Autores: Fish JE, Gutierrez MC, Dang LT, Khyzha N, Chen Z, Veitch S, Cheng HS, Khor M, Antounians L, Njock MS, Boudreau E, Herman AM, Rhyner AM, Ruiz OE, Eisenhoffer GT, Medina-Rivera A, Wilson MD, Wythe JD.
Afiliaciones: Toronto General Hospital Research Institute, University Health Network, Toronto M5G 2C4, Canada wythe@bcm.edu jason.fish@utoronto.ca. 2 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto M5S 1A8, Canada. 3 Heart and Stroke Richard Lewar Centre of Excellence in Cardiovascular Research, Toronto M5S 3H2, Canada. 4 Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX 77030, USA. 5 Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA. 6 Graduate Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. 7 Toronto General Hospital Research Institute, University Health Network, Toronto M5G 2C4, Canada. 8 Genetics and Genome Biology, Hospital for Sick Children, Toronto M5G 0A4, Canada. 9 Department of Molecular Genetics, University of Toronto, Toronto M5S 1A8, Canada. 10 Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. 11 Graduate School of Biomedical Sciences, University of Texas, MD Anderson Cancer Center, Houston, TX 77030, USA. 12
Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro 76230, México. 13 Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX 77030, USA wythe@bcm.edu jason.fish@utoronto.ca.
Journal: Development. 2017 May 23, Vol 144, Pages 2428-2444
Doi: 10.1242/dev.146050.

Título: Relative performance of two DNA extraction and library preparation methods on archaeological human teeth samples

Autores: Marcela Sandoval-Velasco, Inge K. C. Lundstrøm, Nathan Wales, María C. Ávila-Arcos, Hannes Schroeder & M. Thomas P. Gilbert (2017)
Afiliaciones: a Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen K, Denmark; b International Laboratory for Human Genome Research, National Autonomous University of Mexico, Querétaro, Mexico; c Faculty of Archaeology, Leiden University, PO Box 9515, 2300 Leiden, The Netherlands; d Trace and Environmental DNA Laboratory, Department of Environment and Agriculture, Curtin University, Perth, Australia; e Norwegian University of Science and Technology, University Museum, 7491 Trondheim, Norway
Journal: STAR: Science & Technology of Archaeological Research, Vol 3, Pages 80-88
Doi: 10.1080/20548923.2017.1388551

Título: Widespread Enhancer Activity from CorePromoters (2018)

Autores: AlejandraMedina-Rivera 1, DavidSantiago-Algarra 2,3 DenisPuthier 2,3, SalvatoreSpicuglia 2,3.
Afiliaciones: 1 Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Mexico, 2 Aix-Marseille University, INSERM, TAGC, UMR 1090, Marseille, France, 3 Equipe Labéllisée, Ligue Contre le Cancer, Paris, France
Journal: Trends in Biochemichal Sciences, April 16 2018, Vol 43, Pages P452-468
DOI: https://doi.org/10.1016/j.tibs.2018.03.004

Título: Genomic insights into the origin and diversification of late maritime hunter-gatherers from the Chilean Patagonia

Autores: Constanza de la Fuentea,b, María C. Ávila-Arcosc , Jacqueline Galimanya , Meredith L. Carpenterd,e, Julian R. Homburgerf , Alejandro Blancoa , Paloma Contrerasa , Diana Cruz Dávalosg , Omar Reyesh , Manuel San Romanh , Andrés Moreno-Estradai , Paula F. Camposb,j, Celeste Engk , Scott Huntsmank , Esteban G. Burchardl , Anna-Sapfo Malaspinasm, Carlos D. Bustamanted,f, Eske Willerslevb,n,o, Elena Llopa , Ricardo A. Verdugoa,1, and Mauricio Moragaa,1
Afiliaciones: a Human Genetics Program, Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Santiago 8380453, Chile; b Centre for GeoGenetics, University of Copenhagen, 1350 Copenhagen, Denmark; c International Laboratory for Human Genome Research, National Autonomous University of Mexico, Juriquilla 76230, Santiago de Querétaro, Mexico; d Center for Computational, Evolutionary and Human Genomics, Stanford University, Stanford, CA 94305; e Arc Bio, LLC, Menlo Park, CA 94025; f Department of Genetics, Stanford University, Stanford, CA 94305; g Institute of Ecology and Evolution, University of Bern, 3012 Bern, Switzerland; h Centro de Estudios del Hombre Austral, Instituto de la Patagonia, Universidad de Magallanes, Punta Arenas 6213029, Chile; i National Laboratory of Genomics for Biodiversity, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Irapuato, 36821 Guanajuato, Mexico; j Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Novo Edificio do Terminal de Cruzeiros do Porto de Leixões, 4450-208 Matosinhos, Portugal; k Department of Medicine, University of California, San Francisco, CA 94131; l Department of Bioengineering and Therapeutic Science, University of California, San Francisco, CA 94158; mDepartment of Computational Biology, University of Lausanne, 1015 Lausanne, Switzerland; n Department of Zoology, University of Cambridge, Cambridge CB2 1TN, United Kingdom; and o Wellcome Genome Campus, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, United Kingdom
Journal: PNAS, Vol 115, Pages E4006–E4012
DOI: doi.org/10.1073/pnas.1715688115

Título: Whole-genome sequencing of Atacama skeleton shows novel mutations linked with displasia

Autores: Sanchita Bhattacharya1, Jian Li2, Alexandra Sockell3, Matthew J. Kan1, Felice A. Bava4, Shann-Ching Chen1, María C. Ávila-Arcos5, Xuhuai Ji6, Emery Smith7, Narges B. Asadi2, Ralph S. Lachman8, Hugo Y.K. Lam2, Carlos D. Bustamante3, Atul J. Butte1,9 and Garry P. Nolan4,9
Afiliaciones: 1Institute for Computational Health Sciences, University of California San Francisco, San Francisco, California 94158, USA; 2Roche Sequencing Solutions, Belmont, California 94002, USA; 3Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA; 4Baxter Laboratory for Stem Cell Biology, Department of Microbiology and Immunology, Stanford University, Stanford, California 94305, USA; 5International Laboratory for Human Genome Research, National Autonomous University of Mexico (UNAM) Santiago de Querétaro, Querétaro 76230, Mexico; 6Human Immune Monitoring Center and Functional Genomics Facility, Stanford University, Stanford, California 94305, USA; 7Ultra Intelligence Corporation, Boulder, Colorado 80301, USA; 8Department of Pediatric Radiology, Stanford University School of Medicine, Stanford, California 94305, USA
Journal: Genome Research
DOI: doi/10.1101/gr.223693.117.

Título: Origins and genetic legacies of the Caribbean Taino

Autores: Hannes Schroeder, Martin Sikora, Shyam Gopalakrishnan, Lara M. Cassidy, Pierpaolo Maisano Delser, Marcela Sandoval Velasco, Joshua G. Schraiber, Simon Rasmussen, Julian R. Homburger, María C. Ávila-Arcos, Morten E. Allentoft, J. Víctor Moreno-Mayar, Gabriel Renaud, Alberto Gómez-Carballa, Jason E. Laffoon, Rachel J. A. Hopkins, Thomas F. G. Higham, Robert S. Carr, William C. Schaffer, Jane S. Day, Menno Hoogland, Antonio Salas, Carlos D. Bustamante, Rasmus Nielsen, Daniel G. Bradley, Corinne L. Hofman, and Eske Willerslev
Afiliaciones: a Center for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark; b Faculty of Archaeology, Leiden University, 2333 CC Leiden, The Netherlands; c Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland; d Department of Zoology, University of Cambridge, CB2 3EJ Cambridge, United Kingdom; e Department of Biology, Temple University, Philadelphia, PA 19122-6078; f DTU Bioinformatics, Department of Bio and Health Informatics, Technical University of Denmark, Kemitorvet, 2800 Kongens Lyngby, Denmark; g Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305; h International Laboratory for Human Genome Research, National Autonomous University of Mexico, Juriquilla 76230, Santiago de Querétaro, Mexico; i Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; j GenPoB Research Group, Instituto de Investigaciones Sanitarias, Hospital Clínico Universitario de Santiago, 15872 Galicia, Spain; k Faculty of Sciences, Vrije Universiteit, 1081 HV Amsterdam, The Netherlands; l Oxford Radiocarbon Accelerator Unit, Research Laboratory for Archaeology and the History of Art, University of Oxford, OX1 3QY Oxford, United Kingdom; mArchaeological and Historical Conservancy Inc., Davie, FL 33341; n Liberal Arts Department, Phoenix College, Phoenix, AZ 85013; o Center for Bioarchaeological Research, School of Human Evolution and Social Change, Arizona State University, Tempe, AZ 85281; p Research Atlantica Inc., Boca Raton, FL 33432; q Department of Integrative Biology, University of California, Berkeley, CA 94720; and r Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, CB10 1SA, United Kingdom
Journal: PNAS, March 6, 2018, Vol 115, Pages 2341–2346
DOI: doi.org/10.1073/pnas.1716839115

Título: A perfect match genomic landscape provides a unifies framework for the precise detection of variation in natural and synthetic haploid genomes.

Autores: Kim Palacios-Flores,*,1 Jair García-Sotelo,* Alejandra Castillo,* Carina Uribe,* Luis Aguilar,* Lucía Morales,* Laura Gómez-Romero,* José Reyes,* Alejandro Garciarubio,† Margareta Boege,* and Guillermo Dávila*
Afiliaciones: *Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Querétaro 76230, México and †Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca, Morelos 62210, México
Journal: GENETICS, April 2018, Vol. 208, Pages 1631–1641
DOI: 10.1534/genetics.117.300589
1Corresponding author: Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Blvd. Juriquilla 3001, Querétaro, Querétaro 76230, México. E-mail: kimpalaciosflores@gmail.com

Título: RSAT 2018: regulatory sequence analysis tools 20th anniversary

Autores: Nguyen NTT1, Contreras-Moreira B2,3, Castro-Mondragon JA4,5, Santana-Garcia W6, Ossio R6, Robles-Espinoza CD6,7, Bahin M1, Collombet S1, Vincens P1, Thieffry D1, van Helden J4, Medina-Rivera A6, Thomas-Chollier M1.
Afiliaciones: Institut de biologie de l’Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Université Paris, 75005 Paris, France. 2 Estación Experimental de Aula Dei-CSIC, Zaragoza, Spain. 3 Fundación ARAID, Zaragoza, Spain. 4 Aix-Marseille Univ, INSERM UMR_S 1090, Theory and Approaches of Genome Complexity (TAGC), F-13288 Marseille, France. 5 Centre for Molecular Medicine Norway (NCMM), Nordic EMBL Partnership, University of Oslo, 0318 Oslo, Norway. 6 Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Blvd Juriquilla 3001, Santiago de Querétaro 76230, México. 7 Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.
Journal: Nucleic Acids Research, May 2, 2018, Vol 46, Pages W209–W214
DOI: 10.1093/nar/gky317

Título: Precise detection of de novo single nucleotide variants in human genomes

Autores: Laura Gómez-Romero, Kim Palacios-Flores, José Reyes, Delfino García, Margareta Boege, Guillermo Dávila, Margarita Flores, Michael C. Schatz, and Rafael Palacios.
Afiliaciones: a Centro de Ciencias Genómicas, Universidad Nacional Autónoma de México, Cuernavaca, 62210 Morelos, México; b Laboratorio Internacional de Investigación Sobre el Genoma Humano, Universidad Nacional Autónoma De México, Juriquilla, 76230 Querétaro, Mexico; c Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724; and d Departments of Computer Science and Biology, Johns Hopkins University, Baltimore, MD 21211
Journal: PNAS May 22, 2018, Vol 115, Pages 5516–5521
DOI: doi.org/10.1073/pnas.1802244115

Título: In-solution Y-chromosome capture-enrichment on ancient DNA libraries

Autores: Diana I. Cruz-Dávalos, María A. Nieves-Colón, Alexandra Sockell, G. David Poznik, Hannes Schroeder, Anne C. Stone, Carlos D. Bustamante, Anna-Sapfo Malaspinas and María C. Ávila-Arcos.
Afiliaciones: Institute of Ecology and Evolution, University of Bern, Bern, Switzerland, International Laboratory for Human Genome Research, National Autonomous University of Mexico, Mexico, Mexico Full list of author information is available at the end of the article.
Journal: BMC Genomics, 2018
DOI: doi.org/10.1073/pnas.1802244115

Título: VCF/Plotein: Visualisation and prioritisation of genomic variants from human exome sequencing projects

Autores:Raul Ossio O, Isaac Garcia-Salinas, Diego Said Anaya-Mancilla, Jair S Garcia-Sotelo, Luis A Aguilar, David J Adams, Carla Daniela Robles-Espinoza.
Afiliaciones: Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro, Qro., 76230, Mexico, Experimental Cancer Genetics, Wellcome Sanger Institute, Hinxton Cambridge, CB10 1SA, UK.
Journal: Bioinformatics, 2019
DOI: doi.org/10.1093/bioinformatics/btz458

Título: BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma

Autores:Herbert K, Binet R, Lambert JP, Louphrasitthiphol P, Kalkavan, Sesma-Sanz L, Robles-Espinoza CD, Sarkar S, Suer E, Andrews S, Chauhan J, Roberts ND, Middleton MR, Gingras AC, Masson JY, Larue L, Falletta P, Goding CR.
Afiliaciones: Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford OX3 7DQ, United Kingdom.2Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X5, Canada.3Department of Molecular Medicine, Cancer Research Centre, Université Laval, Quebec G1V 0A6, Canada; CHU de Québec Research Center, CHUL, Quebec G1V 4G2, Canada.4Department of Immunology, St. Jude Children’s Research Hospital, Memphis, Tennessee 38105, USA.5Genome Stability Laboratory, CHU de Oncology Division, Québec Research Center, Québec City, Quebec G1R 3S3, Canada.6Department of Molecular Biology, Medical Biochemistry, and Pathology, Laval University Cancer Research Center, Québec City, Quebec G1V 0A6, Canada.7Laboratorio Internacional de Investigación Sobre el Genoma Humano, Universidad Nacional Autónoma de México, Santiago de Querétaro 76230, Mexico.8Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, United Kingdom.9Department of Oncology, University of Oxford, Headington, Oxford OX3 7DQ, United Kingdom.10The Cancer Genome Project, The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, United Kingdom.11Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.12Institut Curie, PSL Research University, Normal and Pathological Development of Melanocytes, U1021, Institut National de la Santé et de la Recherche Médicale (INSERM), 91405 Orsay, France.13University Paris-Sud, University Paris-Saclay, UMR 3347, Centre National de la Recherche Scientifique (CNRS), 91505 Orsay, France.14Equipe Labellisée Ligue Contre le Cancer, 91405 Orsay, France.15Università Vita-Salute San Raffaele, Milano, 20132 Milano MI, Italy.
Journal: Genes development, March 2019,1;33(5-6):310-332.
DOI: doi: 10.1101/gad.314633.118.

Título: Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Autores:Wong K, van der Weyden L, Schott CR, Foote A, Constantino-Casas F, Smith S, Dobson JM, Murchison EP, Wu H, Yeh I, Fullen DR, Joseph N, Bastian BC, Patel RM, Martincorena I, Robles-Espinoza CD, Iyer V, Kuijjer ML, Arends MJ, Brenn T, Harms PW, Wood GA, Adams DJ.
Afiliaciones: Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Department of Pathobiology, University of Guelph, 50 Stone Road E., Guelph, ON, N1G 2W1, Canada.3Rossdales Equine Hospital and Diagnostic Centre, High Street, Newmarket, Suffolk, CB8 8JS, UK.4Department of Veterinary Medicine, Cambridge Veterinary School, University of Cambridge, Cambridge, CB3 0ES, UK.5The Royal (Dick) School of Veterinary Studies and The Roslin Institute, Easter Bush Campus, Midlothian, EH25 9RG, UK., Departments of Dermatology and Pathology, University of California, San Francisco, CA, 94143, USA.7Departments of Pathology and Dermatology, University of Michigan Medical School, 3261 Medical Science I, 1301 Catherine, Ann Arbor, MI, 48109-5602, USA., Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Blvd Juriquilla 3001, Santiago de Querétaro, 76230, Mexico., Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02215, USA.10Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA, 02215, USA.11Centre for Molecular Medicine Norway (NCMM), Nordic EMBL Partnership, Faculty of Medicine, University of Oslo, 0349, Oslo, Norway.12University of Edinburgh, Division of Pathology, Centre for Comparative Pathology, Cancer Research UK Edinburgh Centre, Institute of Genetics & Molecular Medicine, Western General Hospital, Crewe Road South, Edinburgh, EH4 2XR, UK.13Department of Pathology and Laboratory Medicine, Cumming School of Medicine and Arnie Charbonneau Cancer Institute, University of Calgary, Calgary, T2L 2K8, Canada.14Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. da1@sanger.ac.uk.
Journal: Nature Communications, January 2019,10(1):353.
DOI: 10.1038/s41467-018-08081-1

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