Literature DB >> 25123743

Surveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal Genomics.

J C Denny1.   

Abstract

OBJECTIVE: To provide a survey of recent progress in the use of large-scale biologic data to impact clinical care, and the impact the reuse of electronic health record data has made in genomic discovery.
METHOD: Survey of key themes in translational bioinformatics, primarily from 2012 and 2013. RESULT: This survey focuses on four major themes: the growing use of Electronic Health Records (EHRs) as a source for genomic discovery, adoption of genomics and pharmacogenomics in clinical practice, the possible use of genomic technologies for drug repurposing, and the use of personal genomics to guide care.
CONCLUSION: Reuse of abundant clinical data for research is speeding discovery, and implementation of genomic data into clinical medicine is impacting care with new classes of data rarely used previously in medicine.

Keywords:  Translational bioinformatics; big data; electronic health records; genomics; personalized medicine

Mesh:

Year:  2014        PMID: 25123743      PMCID: PMC4287076          DOI: 10.15265/IY-2014-0015

Source DB:  PubMed          Journal:  Yearb Med Inform        ISSN: 0943-4747


  75 in total

1.  Use of genome-wide association studies for drug repositioning.

Authors:  Philippe Sanseau; Pankaj Agarwal; Michael R Barnes; Tomi Pastinen; J Brent Richards; Lon R Cardon; Vincent Mooser
Journal:  Nat Biotechnol       Date:  2012-04-10       Impact factor: 54.908

2.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Authors:  Lucia A Hindorff; Praveen Sethupathy; Heather A Junkins; Erin M Ramos; Jayashri P Mehta; Francis S Collins; Teri A Manolio
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

3.  BRAF mutations in hairy-cell leukemia.

Authors:  Enrico Tiacci; Vladimir Trifonov; Gianluca Schiavoni; Antony Holmes; Wolfgang Kern; Maria Paola Martelli; Alessandra Pucciarini; Barbara Bigerna; Roberta Pacini; Victoria A Wells; Paolo Sportoletti; Valentina Pettirossi; Roberta Mannucci; Oliver Elliott; Arcangelo Liso; Achille Ambrosetti; Alessandro Pulsoni; Francesco Forconi; Livio Trentin; Gianpietro Semenzato; Giorgio Inghirami; Monia Capponi; Francesco Di Raimondo; Caterina Patti; Luca Arcaini; Pellegrino Musto; Stefano Pileri; Claudia Haferlach; Susanne Schnittger; Giovanni Pizzolo; Robin Foà; Laurent Farinelli; Torsten Haferlach; Laura Pasqualucci; Raul Rabadan; Brunangelo Falini
Journal:  N Engl J Med       Date:  2011-06-11       Impact factor: 91.245

4.  Characterization of statin dose response in electronic medical records.

Authors:  W-Q Wei; Q Feng; L Jiang; M S Waitara; O F Iwuchukwu; D M Roden; M Jiang; H Xu; R M Krauss; J I Rotter; D A Nickerson; R L Davis; R L Berg; P L Peissig; C A McCarty; R A Wilke; J C Denny
Journal:  Clin Pharmacol Ther       Date:  2013-10-04       Impact factor: 6.875

5.  Discovering medical conditions associated with periodontitis using linked electronic health records.

Authors:  Mary Regina Boland; George Hripcsak; David J Albers; Ying Wei; Adam B Wilcox; Jin Wei; Jianhua Li; Steven Lin; Michael Breene; Ronnie Myers; John Zimmerman; Panos N Papapanou; Chunhua Weng
Journal:  J Clin Periodontol       Date:  2013-03-15       Impact factor: 8.728

6.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

Authors:  Joshua C Denny; Marylyn D Ritchie; Melissa A Basford; Jill M Pulley; Lisa Bastarache; Kristin Brown-Gentry; Deede Wang; Dan R Masys; Dan M Roden; Dana C Crawford
Journal:  Bioinformatics       Date:  2010-03-24       Impact factor: 6.937

Review 7.  The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics.

Authors:  P H O'Donnell; A Bush; J Spitz; K Danahey; D Saner; S Das; N J Cox; M J Ratain
Journal:  Clin Pharmacol Ther       Date:  2012-08-29       Impact factor: 6.875

8.  Biobanks and electronic medical records: enabling cost-effective research.

Authors:  Erica Bowton; Julie R Field; Sunny Wang; Jonathan S Schildcrout; Sara L Van Driest; Jessica T Delaney; James Cowan; Peter Weeke; Jonathan D Mosley; Quinn S Wells; Jason H Karnes; Christian Shaffer; Josh F Peterson; Joshua C Denny; Dan M Roden; Jill M Pulley
Journal:  Sci Transl Med       Date:  2014-04-30       Impact factor: 17.956

9.  Efficient replication of over 180 genetic associations with self-reported medical data.

Authors:  Joyce Y Tung; Chuong B Do; David A Hinds; Amy K Kiefer; J Michael Macpherson; Arnab B Chowdry; Uta Francke; Brian T Naughton; Joanna L Mountain; Anne Wojcicki; Nicholas Eriksson
Journal:  PLoS One       Date:  2011-08-17       Impact factor: 3.240

10.  An Altered Treatment Plan Based on Direct to Consumer (DTC) Genetic Testing: Personalized Medicine from the Patient/Pin-cushion Perspective.

Authors:  Jessica D Tenenbaum; Andra James; Kristin Paulyson-Nuñez
Journal:  J Pers Med       Date:  2012-10-30
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  8 in total

1.  Personalized Therapeutics and Pharmacogenomics: Integral to Personalized Health Care.

Authors:  Wolfgang Sadee
Journal:  Pharm Res       Date:  2017-05-10       Impact factor: 4.200

Review 2.  A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine.

Authors:  J Vamathevan; E Birney
Journal:  Yearb Med Inform       Date:  2017-09-11

3.  Defining Phenotypes from Clinical Data to Drive Genomic Research.

Authors:  Jamie R Robinson; Wei-Qi Wei; Dan M Roden; Joshua C Denny
Journal:  Annu Rev Biomed Data Sci       Date:  2018-04-25

Review 4.  Post-genomic behavioral genetics: From revolution to routine.

Authors:  D G Ashbrook; M K Mulligan; R W Williams
Journal:  Genes Brain Behav       Date:  2017-12-21       Impact factor: 3.449

Review 5.  Translational Bioinformatics: Past, Present, and Future.

Authors:  Jessica D Tenenbaum
Journal:  Genomics Proteomics Bioinformatics       Date:  2016-02-11       Impact factor: 7.691

6.  Applying deep neural networks to unstructured text notes in electronic medical records for phenotyping youth depression.

Authors:  Joseph Geraci; Pamela Wilansky; Vincenzo de Luca; Anvesh Roy; James L Kennedy; John Strauss
Journal:  Evid Based Ment Health       Date:  2017-07-24

Review 7.  Genome-wide and Phenome-wide Approaches to Understand Variable Drug Actions in Electronic Health Records.

Authors:  Jamie R Robinson; Joshua C Denny; Dan M Roden; Sara L Van Driest
Journal:  Clin Transl Sci       Date:  2017-11-17       Impact factor: 4.689

8.  Practical considerations in genomic decision support: The eMERGE experience.

Authors:  Timothy M Herr; Suzette J Bielinski; Erwin Bottinger; Ariel Brautbar; Murray Brilliant; Christopher G Chute; Beth L Cobb; Joshua C Denny; Hakon Hakonarson; Andrea L Hartzler; George Hripcsak; Joseph Kannry; Isaac S Kohane; Iftikhar J Kullo; Simon Lin; Shannon Manzi; Keith Marsolo; Casey Lynnette Overby; Jyotishman Pathak; Peggy Peissig; Jill Pulley; James Ralston; Luke Rasmussen; Dan M Roden; Gerard Tromp; Timothy Uphoff; Chunhua Weng; Wendy Wolf; Marc S Williams; Justin Starren
Journal:  J Pathol Inform       Date:  2015-09-28
  8 in total

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