Evidence map›Paper›PMID 40936735›Full record

ArticleProceedings. IEEE International Conference on Bioinformatics and Biomedicine2022

Integrative Rare Disease Profile Creation via NormMap to Advance Rare Disease Research.

Devon Leadman, Sue Qu, Yanji Xu, Qian Zhu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Proceedings. IEEE International Conference on Bioinformatics and Biomedicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Devon LeadmanDivision of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, MD.
Sue QuDivision of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, MD.
Yanji XuDivision of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, MD.
Qian ZhuDivision of Preclinical Innovation, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Rockville, MD.

Funding

Informatics Research CoreZIATR000410 · NCATS · NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES · PI MATHE, EWY · 2020 to 2020
$595k
Intramural NIH HHS Z99 TR999999Intramural NIH HHS ZIA TR000410
6 · The paper itself

Abstract

Given the nature of rare diseases, lack of data and standards impedes research in rare diseases. A method to improve data interoperability is necessary to allow data reuse, integration, and exchange in rare disease. A computational package named NormMap was developed to identify rare disease related data from various types of resources in free text via semantic annotation with rare disease terms from NCATS Genetic and Rare Diseases (GARD). In this preliminary study, four different sources which include NIH funded projects, clinical trials, PubMed articles, and Reddit subreddits, were applied to generate rare disease profiles by extending and exploring NormMap. Those profiles would offer a complete view of rare diseases from different aspects, funding agencies, patient groups, scientific research, to ultimately advance rare disease research, which is demonstrated in our case study.

Indexed as

data integrationNormMaprare diseaserare disease profile

Identifiers

PMID40936735
PMCPMC12422727

What OpenQuestion holds

Textmetadata
LicenceTDM
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.