Evidence map›Paper›PMID 36776767›Full record

ArticleProceedings. IEEE International Conference on Bioinformatics and Biomedicine2022

Identifying Missing IS-A Relations in Orphanet Rare Disease Ontology.

Maryamsadat Mohtashamian, Rashmie Abeysinghe, Xubing Hao, Licong Cui

Abstract read
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. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. An Automated Approach for Identifying Erroneous IS-A Relations in SNOMED CT.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2024
    Article
  4. A GCN-based approach to uncover misaligned synonymous terms in the UMLS Metathesaurus.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2023
    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

4 authors.

Maryamsadat MohtashamianThe University of Texas Health, Science Center at Houston, School of Biomedical Informatics, Houston, TX.
Rashmie AbeysingheThe University of Texas Health, Science Center at Houston, McGovern Medical School, Houston, TX.
Xubing HaoThe University of Texas Health, Science Center at Houston, School of Biomedical Informatics, Houston, TX.
Licong CuiThe University of Texas Health, Science Center at Houston, School of Biomedical Informatics, Houston, TX.

Funding

An informatics framework for SUDEP Risk Marker Identification and Risk AssessmentR01NS116287 · NINDS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CUI, LICONG · 2020 to 2024
$1.7M
Biomedical Terminology Quality Assurance for Enhancing Clinical Queries over Electronic Health RecordsR01LM013335 · NLM · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CUI, LICONG · 2020 to 2021
$663k
An Interface Ontology for Alzheimer's Disease ResearchR21AG068994 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CUI, LICONG · 2020 to 2021
$429k
NIA NIH HHS R21 AG068994NINDS NIH HHS R01 NS116287NLM NIH HHS R01 LM013335
6 · The paper itself

Abstract

The Orphanet Rare Disease Ontology (ORDO) provides a structured vocabulary encapsulating rare diseases. Downstream applications of ORDO depend on its accuracy to effectively perform their tasks. In this paper, we implement an automated quality assurance pipeline to identify missing

Indexed as

ontology quality assuranceOrphanetOrphanet rare disease ontologyRare diseases

Identifiers

PMID36776767
PMCPMC9918376

What OpenQuestion holds

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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.