Literature DB >> 26418054

Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.

C L Overby1,2, B Heale3, S Aronson4, J M Cherry5, S Dwight5, A Milosavljevic6, T Nelson2, A Niehaus7, M A Weaver8, E M Ramos7, M S Williams2.   

Abstract

The Clinical Genome Resource (ClinGen) is a National Institutes of Health (NIH)-funded collaborative program that brings together a variety of projects designed to provide high-quality, curated information on clinically relevant genes and variants. ClinGen's EHR (Electronic Health Record) Workgroup aims to ensure that ClinGen is accessible to providers and patients through EHR and related systems. This article describes the current scope of these efforts and progress to date. The ClinGen public portal can be accessed at www.clinicalgenome.org.
© 2015 ASCPT.

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Year:  2015        PMID： 26418054      PMCID： PMC4724305          DOI： 10.1002/cpt.270

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


  8 in total

1.  A novel clinician interface to improve clinician access to up-to-date genetic results.

Authors:  Allison R Wilcox; Pamela M Neri; Lynn A Volk; Lisa P Newmark; Eugene H Clark; Lawrence J Babb; Matthew Varugheese; Samuel J Aronson; Heidi L Rehm; David W Bates
Journal:  J Am Med Inform Assoc       Date:  2013-09-07       Impact factor: 4.497

2.  CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.

Authors:  Brian H Shirts; Joseph S Salama; Samuel J Aronson; Wendy K Chung; Stacy W Gray; Lucia A Hindorff; Gail P Jarvik; Sharon E Plon; Elena M Stoffel; Peter Z Tarczy-Hornoch; Eliezer M Van Allen; Karen E Weck; Christopher G Chute; Robert R Freimuth; Robert W Grundmeier; Andrea L Hartzler; Rongling Li; Peggy L Peissig; Josh F Peterson; Luke V Rasmussen; Justin B Starren; Marc S Williams; Casey L Overby
Journal:  J Am Med Inform Assoc       Date:  2015-07-03       Impact factor: 4.497

3.  Meeting the electronic health record "meaningful use" criterion for the HL7 infobutton standard using OpenInfobutton and the Librarian Infobutton Tailoring Environment (LITE).

Authors:  James J Cimino; Xia Jing; Guilherme Del Fiol
Journal:  AMIA Annu Symp Proc       Date:  2012-11-03

Review 4.  Direct-to-consumer genomic testing: systematic review of the literature on user perspectives.

Authors:  Lesley Goldsmith; Leigh Jackson; Anita O'Connor; Heather Skirton
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

5.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

6.  A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study.

Authors:  Courtney L Scherr; Noralane M Lindor; Teri L Malo; Fergus J Couch; Susan T Vadaparampil
Journal:  Genet Med       Date:  2015-01-08       Impact factor: 8.822

7.  Characteristics of users of online personalized genomic risk assessments: implications for physician-patient interactions.

Authors:  Colleen M McBride; Sharon Hensley Alford; Robert J Reid; Eric B Larson; Andreas D Baxevanis; Lawrence C Brody
Journal:  Genet Med       Date:  2009-08       Impact factor: 8.822

8.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971
  8 in total
  5 in total

Review 1.  Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States.

Authors:  Caryn Kseniya Rubanovich; Cynthia Cheung; Jess Mandel; Cinnamon S Bloss
Journal:  Hum Mol Genet       Date:  2018-08-01       Impact factor: 6.150

2.  Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

Authors:  Luke V Rasmussen; Casey L Overby; John Connolly; Christopher G Chute; Joshua C Denny; Robert Freimuth; Andrea L Hartzler; Ingrid A Holm; Shannon Manzi; Jyotishman Pathak; Peggy L Peissig; Maureen Smith; Marc S Williams; Brian H Shirts; Elena M Stoffel; Peter Tarczy-Hornoch; Carolyn R Rohrer Vitek; Wendy A Wolf; Justin Starren
Journal:  Appl Clin Inform       Date:  2016-09-21       Impact factor: 2.342

3.  Enhancing Electronic Health Record Data with Geospatial Information.

Authors:  Sherrie Xie; Rebecca Greenblatt; Michael Z Levy; Blanca E Himes
Journal:  AMIA Jt Summits Transl Sci Proc       Date:  2017-07-26

4.  ENCODE data at the ENCODE portal.

Authors:  Cricket A Sloan; Esther T Chan; Jean M Davidson; Venkat S Malladi; J Seth Strattan; Benjamin C Hitz; Idan Gabdank; Aditi K Narayanan; Marcus Ho; Brian T Lee; Laurence D Rowe; Timothy R Dreszer; Greg Roe; Nikhil R Podduturi; Forrest Tanaka; Eurie L Hong; J Michael Cherry
Journal:  Nucleic Acids Res       Date:  2015-11-02       Impact factor: 16.971

5.  Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.

Authors:  J T Oates; D Lopez
Journal:  Int J Biomed Investig       Date:  2018-05-27
  5 in total

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