Evidence map›Paper›PMID 37387049›Full record

ArticleStudies in health technology and informatics2023

Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource.

Aly Khalifa, Robert R Freimuth

Abstract read
In one paragraph

Article in Studies in health technology and informatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

2 authors.

Aly KhalifaDepartment of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota.
Robert R FreimuthDepartment of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, Minnesota.

Funding

Integrated Knowledge Management Framework for Clinical GenomicsR35HG011899 · NHGRI · MAYO CLINIC ROCHESTER · PI FREIMUTH, ROBERT RICHARD · 2021 to 2025
$2.4M
NHGRI NIH HHS R35 HG011899
6 · The paper itself

Abstract

The National Institute of Health (NIH) Genetic Testing Registry (GTR) provides a variety of information about genetic tests such as relevant methods, conditions, and performing laboratories. This study mapped a subset of GTR data to the newly developed HL7®-FHIR® Genomic Study resource. Using open-source tools, a web application was developed to implement data mapping and provides many GTR test records as Genomic Study resources. The developed system demonstrates the feasibility of using open-source tools and the FHIR Genomic Study resource to represent publicly available genetic testing information. This study validates the overall design of the Genomic Study resource and proposes two enhancements to support additional data elements.

Indexed as

GenomicsRoutinely Collected Health DataGenetic TestingLaboratoriesRegistriesFHIRGenetic TestingGenomic StudyStandards

Identifiers

PMID37387049
PMCPMC11098452

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.