Evidence map›Paper›PMID 10833163›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA

GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing.

P Tarczy-Hornoch, P Shannon, P Baskin, M Espeseth, R A Pagon

Open access · bronzeAbstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.6field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 26 citations in OpenAlex.

  1. Article
  2. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.Genetics in medicine : official journal of the American College of Medical Genetics · 2013
    Article
  3. GeneTests: an online genetic information resource for health care providers.Journal of the Medical Library Association : JMLA · 2006
    Article
  4. Infobuttons at Intermountain Healthcare: utilization and infrastructure.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2006
    Article
  5. Distribution of immunodeficiency fact files with XML--from Web to WAP.BMC medical informatics and decision making · 2005
    Article
  6. Article
  7. Electronic publishing of scholarly communication in the biomedical sciences.Journal of the American Medical Informatics Association : JAMIA
    Article
  8. Design of Genetics Home Reference: a new NLM consumer health resource.Journal of the American Medical Informatics Association : JAMIA
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

P Tarczy-HornochDepartment of Pediatrics, University of Washington, Seattle 98195-6320, USA. pth@u.washington.edu
P Shannon
P Baskin
M Espeseth
R A Pagon
University of Washington · US

Funding

GENLINE--AN ELECTRONIC CLINICAL GENETICS KNOWLEDGE BASEP41LM006029 · NLM · UNIVERSITY OF WASHINGTON · PI PAGON, ROBERTA A · 1997 to 2001
$417k
NLM NIH HHS P41-LM06029
6 · The paper itself

Abstract

GeneClinics is an online genetic information resource consisting of descriptions of specific inherited disorders ("disease profiles") as well as information on the role of genetic testing in the diagnosis, management, and genetic counseling of patients with these inherited conditions. GeneClinics is intended to promote the use of genetic services in medical care and personal decision making by providing health care practitioners and patients with information on genetic testing for specific inherited disorders. GeneClinics is implemented as an object-oriented database containing a combination of data and semistructured text that is rendered as HTML for publishing a given "disease profile" on the Web. Content is acquired from authors via templates, converted to an XML document reflecting the underlying database schema (with tagging of embedded data), and then loaded into the database and subjected to peer review. The initial implementation of a production system and the first phase of population of the GeneClinics database content are complete. Further expansion of the content to cover more disease, significant scaling up of rate of content creation, and evaluation redesign are under way. The ultimate goal is to have an entry in GeneClinics for each entry in the GeneTests directory of medical genetics laboratories-that is, for each disease for which clinical genetic testing is available.

Indexed as

Databases as TopicGenetic TestingInternetPublishingSoftwareCausalityGenetic CounselingGenetic Diseases, InbornHumansInformation ServicesProgramming LanguagesSoftware DesignUser-Computer Interface

Identifiers

PMID10833163
PMCPMC61429
OpenAlexW1485315620

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.