Literature DB >> 15298997

Design of Genetics Home Reference: a new NLM consumer health resource.

Joyce A Mitchell1, Jane Fun, Alexa T McCray.   

Abstract

The authors have developed the Genetics Home Reference, a consumer resource that addresses the health implications of the Human Genome Project. The research results made possible by the Human Genome Project are being made available increasingly in scientific databases on the Internet, but, because of the often highly technical nature of these databases, they are not readily accessible to the lay public. The authors' goal is to provide a bridge between the clinical questions of the public and the richness of the data emanating from the Human Genome Project. The Genetics Home Reference currently focuses on single gene or polygenic conditions that are also topics on MEDLINEplus, the National Library of Medicine's primary consumer health site. As knowledge of genetics expands, the interrelationships between genes and diseases will continue to unfold, and the site will reflect these developments.

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Year:  2004        PMID: 15298997      PMCID: PMC524623          DOI: 10.1197/jamia.M1549

Source DB:  PubMed          Journal:  J Am Med Inform Assoc        ISSN: 1067-5027            Impact factor:   4.497


  15 in total

1.  Design and implementation of a national clinical trials registry.

Authors:  A T McCray; N C Ide
Journal:  J Am Med Inform Assoc       Date:  2000 May-Jun       Impact factor: 4.497

2.  Gene ontology: tool for the unification of biology. The Gene Ontology Consortium.

Authors:  M Ashburner; C A Ball; J A Blake; D Botstein; H Butler; J M Cherry; A P Davis; K Dolinski; S S Dwight; J T Eppig; M A Harris; D P Hill; L Issel-Tarver; A Kasarskis; S Lewis; J C Matese; J E Richardson; M Ringwald; G M Rubin; G Sherlock
Journal:  Nat Genet       Date:  2000-05       Impact factor: 38.330

Review 3.  Consumer health information seeking on the Internet: the state of the art.

Authors:  R J Cline; K M Haynes
Journal:  Health Educ Res       Date:  2001-12

Review 4.  Empirical studies assessing the quality of health information for consumers on the world wide web: a systematic review.

Authors:  Gunther Eysenbach; John Powell; Oliver Kuss; Eun-Ryoung Sa
Journal:  JAMA       Date:  2002 May 22-29       Impact factor: 56.272

5.  GeneCards 2002: towards a complete, object-oriented, human gene compendium.

Authors:  Marilyn Safran; Irina Solomon; Orit Shmueli; Michal Lapidot; Shai Shen-Orr; Avital Adato; Uri Ben-Dor; Nir Esterman; Naomi Rosen; Inga Peter; Tsviya Olender; Vered Chalifa-Caspi; Doron Lancet
Journal:  Bioinformatics       Date:  2002-11       Impact factor: 6.937

6.  Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Authors:  Ada Hamosh; Alan F Scott; Joanna Amberger; Carol Bocchini; David Valle; Victor A McKusick
Journal:  Nucleic Acids Res       Date:  2002-01-01       Impact factor: 16.971

7.  Use of the Internet by patients and their families to obtain genetics-related information.

Authors:  M R Taylor; A Alman; D K Manchester
Journal:  Mayo Clin Proc       Date:  2001-08       Impact factor: 7.616

8.  GeneTests-GeneClinics: genetic testing information for a growing audience.

Authors:  Roberta A Pagon; Peter Tarczy-Hornoch; Patricia K Baskin; Joseph E Edwards; Maxine L Covington; Miriam Espeseth; Christine Beahler; Thomas D Bird; Bradley Popovich; Charli Nesbitt; Cynthia Dolan; Kathi Marymee; Nancy B Hanson; Whitney Neufeld-Kaiser; Gina McCullough Grohs; Tracy Kicklighter; Cynthia Abair; Audin Malmin; Matthew Barclay; Rajasri Dharani Palepu
Journal:  Hum Mutat       Date:  2002-05       Impact factor: 4.878

9.  The internet--friend or foe? A questionnaire study of orthopaedic out-patients.

Authors:  C M Gupte; A N A Hassan; I D McDermott; R D Thomas
Journal:  Ann R Coll Surg Engl       Date:  2002-05       Impact factor: 1.891

10.  Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community.

Authors:  P Tarczy-Hornoch; M L Covington; J Edwards; P Shannon; S Fuller; R A Pagon
Journal:  Proc AMIA Symp       Date:  1998
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  11 in total

1.  Electronic medical records and personalized medicine.

Authors:  Mark A Hoffman; Marc S Williams
Journal:  Hum Genet       Date:  2011-04-26       Impact factor: 4.132

2.  Biomedical text summarization to support genetic database curation: using Semantic MEDLINE to create a secondary database of genetic information.

Authors:  T Elizabeth Workman; Marcelo Fiszman; John F Hurdle; Thomas C Rindflesch
Journal:  J Med Libr Assoc       Date:  2010-10

3.  Infobuttons at Intermountain Healthcare: utilization and infrastructure.

Authors:  Guilherme Del Fiol; Roberto A Rocha; Paul D Clayton
Journal:  AMIA Annu Symp Proc       Date:  2006

4.  Challenges and strategies of the Genetics Home Reference.

Authors:  Joyce A Mitchell; Cathy Fomous; Jane Fun
Journal:  J Med Libr Assoc       Date:  2006-07

5.  The multiple dimensions of expanded access to health information: Don Lindberg and the U.S. National Library of Medicine.

Authors:  Betsy L Humphreys
Journal:  Inf Serv Use       Date:  2022-06-10

6.  Current Challenge in Consumer Health Informatics: Bridging the Gap between Access to Information and Information Understanding.

Authors:  Laurence Alpay; John Verhoef; Bo Xie; Dov Te'eni; J H M Zwetsloot-Schonk
Journal:  Biomed Inform Insights       Date:  2009-01-01

7.  Online Patient Education for Chronic Disease Management: Consumer Perspectives.

Authors:  Khin Than Win; Naffisah Mohd Hassan; Harri Oinas-Kukkonen; Yasmine Probst
Journal:  J Med Syst       Date:  2016-02-04       Impact factor: 4.460

8.  Knowledge bases and software support for variant interpretation in precision oncology.

Authors:  Florian Borchert; Andreas Mock; Aurelie Tomczak; Jonas Hügel; Samer Alkarkoukly; Alexander Knurr; Anna-Lena Volckmar; Albrecht Stenzinger; Peter Schirmacher; Jürgen Debus; Dirk Jäger; Thomas Longerich; Stefan Fröhling; Roland Eils; Nina Bougatf; Ulrich Sax; Matthieu-P Schapranow
Journal:  Brief Bioinform       Date:  2021-11-05       Impact factor: 11.622

9.  Argument-predicate distance as a filter for enhancing precision in extracting predications on the genetic etiology of disease.

Authors:  Marco Masseroli; Halil Kilicoglu; François-Michel Lang; Thomas C Rindflesch
Journal:  BMC Bioinformatics       Date:  2006-06-08       Impact factor: 3.169

Review 10.  Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.

Authors:  Qiping Hu; Hongyan Chai; Wei Shu; Peining Li
Journal:  Mol Cytogenet       Date:  2018-02-27       Impact factor: 2.009

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