Evidence map›Paper›PMID 33084582›Full record

ArticleJMIR medical informatics2020

Building a Pharmacogenomics Knowledge Model Toward Precision Medicine: Case Study in Melanoma.

Hongyu Kang, Jiao Li, Meng Wu, Liu Shen, Li Hou

Open access · goldAbstract read
In one paragraph

Article in JMIR medical informatics, 2020. 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
0.3field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

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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, 2 citations in OpenAlex.

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

5 authors at 2 institutions in 1 country.

Hongyu KangInstitute of Medical Information &Library, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-9647-0645
Jiao LiInstitute of Medical Information &Library, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-6391-8343
Meng WuInstitute of Medical Information &Library, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0003-4308-6660
Liu ShenInstitute of Medical Information &Library, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0003-1144-0178
Li HouInstitute of Medical Information &Library, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-9226-2216
Chinese Academy of Medical Sciences & Peking Union Medical College · CNBeijing Institute of Technology · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMany drugs do not work the same way for everyone owing to distinctions in their genes. Pharmacogenomics (PGx) aims to understand how genetic variants influence drug efficacy and toxicity. It is often considered one of the most actionable areas of the personalized medicine paradigm. However, little prior work has included in-depth explorations and descriptions of drug usage, dosage adjustment, and so on.

objectiveWe present a pharmacogenomics knowledge model to discover the hidden relationships between PGx entities such as drugs, genes, and diseases, especially details in precise medication.

methodsPGx open data such as DrugBank and RxNorm were integrated in this study, as well as drug labels published by the US Food and Drug Administration. We annotated 190 drug labels manually for entities and relationships. Based on the annotation results, we trained 3 different natural language processing models to complete entity recognition. Finally, the pharmacogenomics knowledge model was described in detail.

resultsIn entity recognition tasks, the Bidirectional Encoder Representations from Transformers-conditional random field model achieved better performance with micro-F1 score of 85.12%. The pharmacogenomics knowledge model in our study included 5 semantic types: drug, gene, disease, precise medication (population, daily dose, dose form, frequency, etc), and adverse reaction. Meanwhile, 26 semantic relationships were defined in detail. Taking melanoma caused by a BRAF gene mutation into consideration, the pharmacogenomics knowledge model covered 7 related drugs and 4846 triples were established in this case. All the corpora, relationship definitions, and triples were made publically available.

conclusionsWe highlighted the pharmacogenomics knowledge model as a scalable framework for clinicians and clinical pharmacists to adjust drug dosage according to patient-specific genetic variation, and for pharmaceutical researchers to develop new drugs. In the future, a series of other antitumor drugs and automatic relation extractions will be taken into consideration to further enhance our framework with more PGx linked data.

Indexed as

BERT–CRF modelknowledge modelmelanomanamed entity recognitionpharmacogenomics

Identifiers

PMID33084582
PMCPMC7641779
OpenAlexW3085654853

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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.