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Drug Metabolism and Personalized Therapy

Official journal of the European Society of Pharmacogenomics and Personalised Therapy

Editor-in-Chief: Llerena, Adrián

Editorial Board: Benjeddou, Mongi / Chen, Bing / Dahl, Marja-Liisa / Devinsky, Ferdinand / Hirata, Rosario / Hubacek, Jaroslav A. / Ingelman-Sundberg, Magnus / Maitland-van der Zee, Anke-Hilse / Manolopoulos, Vangelis G. / Marc, Janja / Melichar, Bohuslav / Meyer, Urs A. / Nair, Sujit / Nofziger, Charity / Peiro, Ana / Sadee, Wolfgang / Salazar, Luis A. / Simmaco, Maurizio / Turpeinen, Miia / Schaik, Ron / Shin, Jae-Gook / Visvikis-Siest, Sophie / Zanger, Ulrich M.

CiteScore 2018: 1.01

SCImago Journal Rank (SJR) 2018: 0.277
Source Normalized Impact per Paper (SNIP) 2018: 0.446

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Volume 31, Issue 1


Human genetics: international projects and personalized medicine

Maria Apellaniz-Ruiz
  • Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Cristina Gallego
  • Stroke pharmacogenomics and genetics, Fundació Docència i Recerca Mutua Terrassa, Hospital Universitari Mútua de Terrassa, Terrassa (Barcelona), Spain
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Sara Ruiz-Pinto / Angel Carracedo
  • Fundación Pública de Medicina Xenómica-SERGAS. Grupo de Medicina Xenómica, CIBERER, IDIS, Santiago de Compostela, Spain
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Cristina Rodríguez-Antona
  • Corresponding author
  • Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
  • ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2015-11-18 | DOI: https://doi.org/10.1515/dmpt-2015-0032


In this article, we present the progress driven by the recent technological advances and new revolutionary massive sequencing technologies in the field of human genetics. We discuss this knowledge in relation with drug response prediction, from the germline genetic variation compiled in the 1000 Genomes Project or in the Genotype-Tissue Expression project, to the phenome-genome archives, the international cancer projects, such as The Cancer Genome Atlas or the International Cancer Genome Consortium, and the epigenetic variation and its influence in gene expression, including the regulation of drug metabolism. This review is based on the lectures presented by the speakers of the Symposium “Human Genetics: International Projects & New Technologies” from the VII Conference of the Spanish Pharmacogenetics and Pharmacogenomics Society, held on the 20th and 21st of April 2015.

Keywords: epigenetics; genetic variation; human genome; pharmacogenomics


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About the article

Corresponding author: Cristina Rodríguez-Antona, Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain, Phone: +34 917328000, Fax: +34 912246972, E-mail: ; and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain

aMaria Apellaniz-Ruiz, Cristina Gallego and Sara Ruiz-Pinto contributed equally to this work.

Received: 2015-08-31

Accepted: 2015-10-19

Published Online: 2015-11-18

Published in Print: 2016-03-01

Citation Information: Drug Metabolism and Personalized Therapy, Volume 31, Issue 1, Pages 3–8, ISSN (Online) 2363-8915, ISSN (Print) 2363-8907, DOI: https://doi.org/10.1515/dmpt-2015-0032.

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