Literature DB >> 25670512

Enabling the curation of your pharmacogenetic study.

E m McDonagh1, M Whirl-Carrillo, R B Altman, T E Klein.   

Abstract

As pharmacogenomics becomes integrated into clinical practice, curation of published studies becomes increasingly important. At the Pharmacogenomics Knowledgebase (PharmGKB; www.pharmgkb.org), pharmacogenetic associations reported in published articles are manually curated and evaluated. Standard terminologies are used, making findings uniform and unambiguous. Lack of information, clarity, or standards in the original report can make it difficult or impossible to curate. We provide 10 rules to help authors ensure that their results are accurately captured and integrated.
© 2014 ASCPT.

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Year:  2014        PMID: 25670512      PMCID: PMC4352230          DOI: 10.1002/cpt.15

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN: 0009-9236            Impact factor:   6.875


  6 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

2.  The International HapMap Project.

Authors: 
Journal:  Nature       Date:  2003-12-18       Impact factor: 49.962

3.  Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Authors:  Martin Wildeman; Ernest van Ophuizen; Johan T den Dunnen; Peter E M Taschner
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

4.  The need for transparency and good practices in the qPCR literature.

Authors:  Stephen A Bustin; Vladimir Benes; Jeremy Garson; Jan Hellemans; Jim Huggett; Mikael Kubista; Reinhold Mueller; Tania Nolan; Michael W Pfaffl; Gregory Shipley; Carl T Wittwer; Peter Schjerling; Philip J Day; Mónica Abreu; Begoña Aguado; Jean-François Beaulieu; Anneleen Beckers; Sara Bogaert; John A Browne; Fernando Carrasco-Ramiro; Liesbeth Ceelen; Kate Ciborowski; Pieter Cornillie; Stephanie Coulon; Ann Cuypers; Sara De Brouwer; Leentje De Ceuninck; Jurgen De Craene; Hélène De Naeyer; Ward De Spiegelaere; Kato Deckers; Annelies Dheedene; Kaat Durinck; Margarida Ferreira-Teixeira; Annelies Fieuw; Jack M Gallup; Sandra Gonzalo-Flores; Karen Goossens; Femke Heindryckx; Elizabeth Herring; Hans Hoenicka; Laura Icardi; Rolf Jaggi; Farzad Javad; Michael Karampelias; Frederick Kibenge; Molly Kibenge; Candy Kumps; Irina Lambertz; Tim Lammens; Amelia Markey; Peter Messiaen; Evelien Mets; Sofia Morais; Alberto Mudarra-Rubio; Justine Nakiwala; Hilde Nelis; Pal A Olsvik; Claudina Pérez-Novo; Michelle Plusquin; Tony Remans; Ali Rihani; Paulo Rodrigues-Santos; Pieter Rondou; Rebecca Sanders; Katharina Schmidt-Bleek; Kerstin Skovgaard; Karen Smeets; Laura Tabera; Stefan Toegel; Tim Van Acker; Wim Van den Broeck; Joni Van der Meulen; Mireille Van Gele; Gert Van Peer; Mario Van Poucke; Nadine Van Roy; Sarah Vergult; Joris Wauman; Marina Tshuikina-Wiklander; Erik Willems; Sara Zaccara; Fjoralba Zeka; Jo Vandesompele
Journal:  Nat Methods       Date:  2013-11       Impact factor: 28.547

Review 5.  Pharmacogenomics knowledge for personalized medicine.

Authors:  M Whirl-Carrillo; E M McDonagh; J M Hebert; L Gong; K Sangkuhl; C F Thorn; R B Altman; T E Klein
Journal:  Clin Pharmacol Ther       Date:  2012-10       Impact factor: 6.875

6.  Genenames.org: the HGNC resources in 2013.

Authors:  Kristian A Gray; Louise C Daugherty; Susan M Gordon; Ruth L Seal; Mathew W Wright; Elspeth A Bruford
Journal:  Nucleic Acids Res       Date:  2012-11-17       Impact factor: 16.971

  6 in total
  3 in total

Review 1.  Essential Characteristics of Pharmacogenomics Study Publications.

Authors:  Caroline F Thorn; Michelle Whirl-Carrillo; Houda Hachad; Julie A Johnson; Ellen M McDonagh; Mark J Ratain; Mary V Relling; Stuart A Scott; Russ B Altman; Teri E Klein
Journal:  Clin Pharmacol Ther       Date:  2019-01       Impact factor: 6.875

2.  Big Data Transforms Discovery-Utilization Therapeutics Continuum.

Authors:  S A Waldman; A Terzic
Journal:  Clin Pharmacol Ther       Date:  2016-03       Impact factor: 6.875

3.  Database: A New Article Type in CPT: Pharmacometrics & Systems Pharmacology.

Authors:  L Li; P H van der Graaf
Journal:  CPT Pharmacometrics Syst Pharmacol       Date:  2015-07-28
  3 in total

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