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Literature DB >> 29635477

Pharmacogenomics and big genomic data: from lab to clinic and back again.

Adam Lavertu¹, Greg McInnes¹, Roxana Daneshjou², Michelle Whirl-Carrillo³, Teri E Klein³, Russ B Altman^2,4.

Abstract

The field of pharmacogenomics is an area of great potential for near-term human health impacts from the big genomic data revolution. Pharmacogenomics research momentum is building with numerous hypotheses currently being investigated through the integration of molecular profiles of different cell lines and large genomic data sets containing information on cellular and human responses to therapies. Additionally, the results of previous pharmacogenetic research efforts have been formulated into clinical guidelines that are beginning to impact how healthcare is conducted on the level of the individual patient. This trend will only continue with the recent release of new datasets containing linked genotype and electronic medical record data. This review discusses key resources available for pharmacogenomics and pharmacogenetics research and highlights recent work within the field.

Entities: Species

Mesh：

Year: 2018 PMID： 29635477 PMCID： PMC5946941 DOI： 10.1093/hmg/ddy116

Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150

58 in total

1. Toxicity of primaquine in Caucasians.

Authors: C B CLAYMAN; J ARNOLD; R S HOCKWALD; E H YOUNT; J H EDGCOMB; A S ALVING
Journal: J Am Med Assoc Date: 1952-08-23

Review 2. Lipid lowering with PCSK9 inhibitors.

Authors: Razvan T Dadu; Christie M Ballantyne
Journal: Nat Rev Cardiol Date: 2014-06-24 Impact factor: 32.419

3. Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.

Authors: Yuan Ji; Jennifer M Skierka; Joseph H Blommel; Brenda E Moore; Douglas L VanCuyk; Jamie K Bruflat; Lisa M Peterson; Tamra L Veldhuizen; Numrah Fadra; Sandra E Peterson; Susan A Lagerstedt; Laura J Train; Linnea M Baudhuin; Eric W Klee; Matthew J Ferber; Suzette J Bielinski; Pedro J Caraballo; Richard M Weinshilboum; John L Black
Journal: J Mol Diagn Date: 2016-03-03 Impact factor: 5.568

Review 4. 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

5. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity.

Authors: R M Weinshilboum; S L Sladek
Journal: Am J Hum Genet Date: 1980-09 Impact factor: 11.025

6. A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles.

Authors: Aravind Subramanian; Rajiv Narayan; Steven M Corsello; David D Peck; Ted E Natoli; Xiaodong Lu; Joshua Gould; John F Davis; Andrew A Tubelli; Jacob K Asiedu; David L Lahr; Jodi E Hirschman; Zihan Liu; Melanie Donahue; Bina Julian; Mariya Khan; David Wadden; Ian C Smith; Daniel Lam; Arthur Liberzon; Courtney Toder; Mukta Bagul; Marek Orzechowski; Oana M Enache; Federica Piccioni; Sarah A Johnson; Nicholas J Lyons; Alice H Berger; Alykhan F Shamji; Angela N Brooks; Anita Vrcic; Corey Flynn; Jacqueline Rosains; David Y Takeda; Roger Hu; Desiree Davison; Justin Lamb; Kristin Ardlie; Larson Hogstrom; Peyton Greenside; Nathanael S Gray; Paul A Clemons; Serena Silver; Xiaoyun Wu; Wen-Ning Zhao; Willis Read-Button; Xiaohua Wu; Stephen J Haggarty; Lucienne V Ronco; Jesse S Boehm; Stuart L Schreiber; John G Doench; Joshua A Bittker; David E Root; Bang Wong; Todd R Golub
Journal: Cell Date: 2017-11-30 Impact factor: 41.582

7. Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing.

Authors: S L Van Driest; Y Shi; E A Bowton; J S Schildcrout; J F Peterson; J Pulley; J C Denny; D M Roden
Journal: Clin Pharmacol Ther Date: 2013-11-19 Impact factor: 6.875

8. A global reference for human genetic variation.

Authors: Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal: Nature Date: 2015-10-01 Impact factor: 49.962

9. Genomics of Drug Sensitivity in Cancer (GDSC): a resource for therapeutic biomarker discovery in cancer cells.

Authors: Wanjuan Yang; Jorge Soares; Patricia Greninger; Elena J Edelman; Howard Lightfoot; Simon Forbes; Nidhi Bindal; Dave Beare; James A Smith; I Richard Thompson; Sridhar Ramaswamy; P Andrew Futreal; Daniel A Haber; Michael R Stratton; Cyril Benes; Ultan McDermott; Mathew J Garnett
Journal: Nucleic Acids Res Date: 2012-11-23 Impact factor: 16.971

10. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems.

Authors: L J Rasmussen-Torvik; S C Stallings; A S Gordon; B Almoguera; M A Basford; S J Bielinski; A Brautbar; M H Brilliant; D S Carrell; J J Connolly; D R Crosslin; K F Doheny; C J Gallego; O Gottesman; D S Kim; K A Leppig; R Li; S Lin; S Manzi; A R Mejia; J A Pacheco; V Pan; J Pathak; C L Perry; J F Peterson; C A Prows; J Ralston; L V Rasmussen; M D Ritchie; S Sadhasivam; S A Scott; M Smith; A Vega; A A Vinks; S Volpi; W A Wolf; E Bottinger; R L Chisholm; C G Chute; J L Haines; J B Harley; B Keating; I A Holm; I J Kullo; G P Jarvik; E B Larson; T Manolio; C A McCarty; D A Nickerson; S E Scherer; M S Williams; D M Roden; J C Denny
Journal: Clin Pharmacol Ther Date: 2014-06-24 Impact factor: 6.875

8 in total

1. Artificial Intelligence and Personalized Medicine.

Authors: Nicholas J Schork
Journal: Cancer Treat Res Date: 2019

Review 2. Pharmacogenomics in dermatology: tools for understanding gene-drug associations.

Authors: Roxana Daneshjou; Rachel Huddart; Teri E Klein; Russ B Altman
Journal: Semin Cutan Med Surg Date: 2019-03-01

3. Pharmacogenetics at Scale: An Analysis of the UK Biobank.

Authors: Gregory McInnes; Adam Lavertu; Katrin Sangkuhl; Teri E Klein; Michelle Whirl-Carrillo; Russ B Altman
Journal: Clin Pharmacol Ther Date: 2020-12-17 Impact factor: 6.903

4. A Novel Text-Mining Approach for Retrieving Pharmacogenomics Associations From the Literature.

Authors: Maria-Theodora Pandi; Peter J van der Spek; Maria Koromina; George P Patrinos
Journal: Front Pharmacol Date: 2020-11-10 Impact factor: 5.810

Review 5. Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.

Authors: Gregory McInnes; Andrew G Sharo; Megan L Koleske; Julia E H Brown; Matthew Norstad; Aashish N Adhikari; Sheng Wang; Steven E Brenner; Jodi Halpern; Barbara A Koenig; David C Magnus; Renata C Gallagher; Kathleen M Giacomini; Russ B Altman
Journal: Am J Hum Genet Date: 2021-04-01 Impact factor: 11.025