Evidence map›Paper›PMID 40324016›Full record

ArticlePloS one2025

Replacing non-biomedical concepts improves embedding of biomedical concepts.

Enock Niyonkuru, Mauricio Soto Gomez, Elena Casarighi, Stephan Antogiovanni, Hannah Blau, Justin T Reese, Giorgio Valentini, Peter N Robinson

Abstract read
In one paragraph

Article in PloS one, 2025. 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

5 · Who and what money

Authors and funding

8 authors.

Enock NiyonkuruThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, United States of America.
Mauricio Soto GomezAnacletoLab, Computer Science Department, Dipartimento di Informatica, Università degli Studi di Milano, Milan, Italy.
Elena CasarighiAnacletoLab, Computer Science Department, Dipartimento di Informatica, Università degli Studi di Milano, Milan, Italy.ORCID https://orcid.org/0000-0003-2024-7572
Stephan AntogiovanniThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, United States of America.
Hannah BlauThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, United States of America.ORCID https://orcid.org/0000-0003-4557-5492
Justin T ReeseDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, United States of America.
Giorgio ValentiniAnacletoLab, Computer Science Department, Dipartimento di Informatica, Università degli Studi di Milano, Milan, Italy.ORCID https://orcid.org/0000-0002-5694-3919
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, United States of America.ORCID https://orcid.org/0000-0002-0736-9199

Funding

The Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0M
Improvements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3M
The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for GenomicsU24HG011449 · NHGRI · JACKSON LABORATORY · PI Peter Nicholas Robinson · 2021 to 2026
$6.7M
NHGRI NIH HHS RM1 HG010860NHGRI NIH HHS U24 HG011449NIH HHS R24 OD011883
6 · The paper itself

Abstract

Embeddings are semantically meaningful representations of words in a vector space, commonly used to enhance downstream machine learning applications. Traditional biomedical embedding techniques often replace all synonymous words representing biological or medical concepts with a unique token, ensuring consistent representation and improving embedding quality. However, the potential impact of replacing non-biomedical concept synonyms has received less attention. Embedding approaches often employ concept replacement to replace concepts that span multiple words, such as non-small-cell lung carcinoma, with a single concept identifier (e.g., D002289). Also, all synonyms of each concept are merged into the same identifier. Here, we additionally leveraged WordNet to identify and replace sets of non-biomedical synonyms with their most common representatives. This combined approach aimed to reduce embedding noise from non-biomedical terms while preserving the integrity of biomedical concept representations. We applied this method to 1,055 biomedical concept sets representing molecular signatures or medical categories and assessed the mean pairwise distance of embeddings with and without non-biomedical synonym replacement. A smaller mean pairwise distance was interpreted as greater intra-cluster coherence and higher embedding quality. Embeddings were generated using the Word2Vec algorithm applied to a corpus of 10 million PubMed abstracts. Our results demonstrate that the addition of non-biomedical synonym replacement reduced the mean intra-cluster distance by an average of 8%, suggesting that this complementary approach enhances embedding quality. Future work will assess its applicability to other embedding techniques and downstream tasks. Python code implementing this method is provided under an open-source license.

Indexed as

Machine LearningMedical Informatics ComputingAlgorithmsSemantics

Identifiers

PMID40324016
PMCPMC12052101

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.