Extracting Family History of Patients From Clinical Narratives: Exploring an End-to-End Solution With Deep Learning Models
Open accessPublished version of a preprint
Abstract
Background: Patients’ family history (FH) is a critical risk factor associated with numerous diseases. However, FH information is not well captured in the structured database but often documented in clinical narratives. Natural language processing (NLP) is the key technology to extract patients’ FH from clinical narratives. In 2019, the National NLP Clinical Challenge (n2c2) organized shared tasks to solicit NLP methods for FH information extraction. Objective: This study presents our end-to-end FH extraction system developed during the 2019 n2c2 open shared task as well as the new transformer-based models that we developed after the challenge. We seek to develop a machine learning–based solution for FH information extraction without task-specific rules created by hand. Methods: We developed deep learning–based systems for FH concept extraction and relation identification. We explored deep learning models including long short-term memory-conditional random fields and bidirectional encoder representations from transformers (BERT) as well as developed ensemble models using a majority voting strategy. To further optimize performance, we systematically compared 3 different strategies to use BERT output representations for relation identification. Results: Our system was among the top-ranked systems (3 out of 21) in the challenge. Our best system achieved micro-averaged F1 scores of 0.7944 and 0.6544 for concept extraction and relation identification, respectively. After challenge, we further explored new transformer-based models and improved the performances of both subtasks to 0.8249 and 0.6775, respectively. For relation identification, our system achieved a performance comparable to the best system (0.6810) reported in the challenge. Conclusions: This study demonstrated the feasibility of utilizing deep learning methods to extract FH information from clinical narratives.
AI snapshot
Written from the paper’s full text.
TL;DR
This paper presents an end-to-end deep learning system for extracting family history from clinical narratives in the 2019 n2c2 shared task and post-challenge transformer models. The best post-challenge system achieved micro-F1 scores of 0.8249 for concept extraction and 0.6775 for relation identification.
Key findings
- The best system during the challenge (LSTM-CRFs-EN + BERT-cls + BERT-rel) achieved micro-F1 scores of 0.7944 for concept extraction and 0.6544 for relation identification, ranking third among 21 submitted systems from 17 teams in subtask 2.
- After the challenge, BERT-ner-EN + BERT-cls + BERT-rel improved F1 to 0.8249 for concept extraction and 0.6775 for relation identification; the relation result was comparable to the best challenge score of 0.6810.
- BERT-ner outperformed LSTM-CRFs for observation concepts (F1 0.8094 vs 0.7833) but was marginally lower for family member concepts (0.8066 vs 0.8069); ensembling improved family members by about 2% and observations by about 1.5%.
- For relation categories, the best system achieved F1 scores of 0.6821 for family member–living status and 0.6760 for family member–observation; for BERT output representations, combining [CLS] and start-position entity markers gave an averaged F1 of 0.8975 versus 0.8851 and 0.8904 for the other two strategies.
Methods
- Data: the 2019 n2c2 family history corpus of 216 clinical notes from the Mayo Clinic data warehouse, split into 99 training notes and 117 test notes, with entity-level and document-level annotations for family members, observations, living status, and relations.
- System: a five-module pipeline (preprocessing, NER, classification, relation identification, postprocessing); NER used BIO tagging with LSTM-CRFs and BERT-LARGE, relation identification was framed as binary classification with candidate pairs restricted to family member plus nonfamily member and cross-distance less than 3, and BERT classifiers handled family role, family side, negation, and living status.
- Evaluation: micro-averaged precision, recall, and F1 using the official n2c2 evaluation script; hyperparameters were optimized via fivefold cross-validation, and experiments used 2 NVIDIA P6000 GPUs.
Limitations
- The paper states that limited clinical corpora for FH extraction are available because annotating clinical notes is expensive and time-consuming, and suggests data augmentation such as generative adversarial networks as a potential solution.
- The paper states that the system is a two-stage pipeline, so errors from NER propagate to relation extraction; future work may explore joint learning to alleviate this.
- Evident from the text: the training set is small (99 notes), and some entity types are rare (eg, “parent” appeared once and “grandparent” entities appeared 6 times), which may limit performance and generalizability.
Model-written summary. Check it against the paper before relying on it.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
17 of 32 cited sources checked · 8 supported · 0 flagged · accuracy not yet measured
- Premisecitation
Family history is a critical risk factor associated with numerous diseases.
“Patients’ family history (FH) is a critical risk factor associated with numerous diseases [1-3] such as diabetes [4], coronary heart disease [5], and multiple types of cancers [6-9].”
Quote in the paperSubstantial claim1 of 5 sources checked - Findingown data
We screened 4 different word embeddings and found that the Common Crawl embeddings achieved better performance compared to other embeddings on a validation data set.
“We screened 4 different word embeddings following a similar procedure reported in our previous study [46] and found that the Common Crawl embeddings—released by Facebook and trained using the fastText on the Common Crawl data set [47]—achieved better performance compared to other embeddings on a validation data set.”
Quote in the paperNot a substantial claim2 of 2 sources checked- cites [46] source
- cites [47] source
The Implementation details section says the paper’s subword word-vector model is publicly available, and the copy links to facebookresearch/fastText. But the Datasets section says its models were trained chiefly on Wikipedia, not Common Crawl; the copy does not identify a Common Crawl embedding release. The validation-set comparison is presented as the citing authors’ own result, not a result attributed to [47]. (LLM, conf=0.82)
Experimental — accuracy not yet measured
- Premisecitation
There are only a handful of studies focused on extracting family history of patients.
“However, there are only a handful of studies focused on extracting FH of patients [30-32]”
Quote in the paperSubstantial claim1 of 3 sources checked- cites [30] Wang, Y, 2017, AMIA Jt Summits Transl Sci Proc source
The paper’s introduction describes GLUE as a benchmark for natural-language-understanding tasks, and its Diagnostic Dataset section discusses linguistic phenomena, not patient records. Searches for family-history extraction and clinical information extraction found no passage assessing how many studies address that topic. No page numbers are available in our copy. (LLM, conf=0.78)
Experimental — accuracy not yet measured - cites [31] Goryachev, S, 2008, AMIA Annu Symp Proc
Not checked in the free run.
- cites [32] Bill, R, 2014, AMIA Annu Symp Proc
Not checked in the free run.
- Findingown data
Our best submission during the original challenge achieved a micro-averaged F1 score of 0.6544 for relation identification (subtask 2).
“Our best submission during the original challenge (LSTM-CRFs-EN + BERT-cls +BERT-rel) achieved F1 scores of 0.7944 and 0.6544 for subtask 1 and subtask 2, respectively”
- Also stated in: § Results · plain
“Our best system achieved micro-averaged F1 scores of 0.7944 and 0.6544 for concept extraction and relation identification, respectively.”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
After the challenge, the combination of BERT-ner-EN, BERT-cls, and BERT-rel achieved a micro-averaged F1 score of 0.6775 for subtask 2.
“After the challenge, we further explored the BERT model for NER and the combination of BERT-ner-EN, BERT-cls, and BERT-rel achieved better F1 scores of 0.8249 and 0.6775 for the 2 subtasks, respectively.”
- Also stated in: § Results · plain
“After challenge, we further explored new transformer-based models and improved the performances of both subtasks to 0.8249 and 0.6775, respectively.”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
Compared to our best system developed during the challenge, the new system improved the F1 score by 0.0305 for subtask 1.
“Compared to our best system developed during the challenge (LSTM-CRFs-EN + BERT-cls + BERT-rel), the new system (BERT-ner-EN + BERT-cls + BERT-rel) improved the F1 scores by 0.0305 and 0.0235 for the 2 subtasks, respectively.”
Quote in the paperSubstantial claim - Findingown data
The BERT-ner model achieved marginally lower F1 for family member concepts than LSTM-CRFs (0.8066 vs 0.8069).
“Compared with LSTM-CRFs, the BERT-ner model achieved a remarkably higher F1 score for the observation concepts (0.8094 for BERT-ner versus 0.7833 for LSTM-CRFs), but marginally lower performance for the family member concepts (0.8066 for BERT-ner versus 0.8069 for LSTM-CRFs).”
Quote in the paperNot a substantial claim - Findingown data
Our best submission during the original challenge (LSTM-CRFs-EN + BERT-cls + BERT-rel) achieved a micro-averaged F1 score of 0.7944 for concept extraction (subtask 1).
“Our best submission during the original challenge (LSTM-CRFs-EN + BERT-cls +BERT-rel) achieved F1 scores of 0.7944 and 0.6544 for subtask 1 and subtask 2, respectively”
- Also stated in: § Results · plain
“Our best system achieved micro-averaged F1 scores of 0.7944 and 0.6544 for concept extraction and relation identification, respectively.”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
Our best relation identification performance (0.6775) was comparable to the best result reported in the challenge (0.6810).
“Our best relation identification performance was comparable to the best result reported in this challenge (0.6775 from us versus 0.6810 reported in this challenge).”
- Also stated in: § Results · plain
“For relation identification, our system achieved a performance comparable to the best system (0.6810) reported in the challenge.”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
Our best submission was ranked third in subtask 2 of the 2019 n2c2 challenge.
“Our best submission was ranked fifth in subtask 1 and third in subtask 2.”
- Also stated in: § Results · plain
“which is the third best system of this challenge among 17 participants.”
Quote in the paperNot a substantial claim - Also stated in: § Results · plain
- Findingown data
The BERT-ner model achieved a higher F1 score for observation concepts than LSTM-CRFs (0.8094 vs 0.7833).
“Compared with LSTM-CRFs, the BERT-ner model achieved a remarkably higher F1 score for the observation concepts (0.8094 for BERT-ner versus 0.7833 for LSTM-CRFs), but marginally lower performance for the family member concepts (0.8066 for BERT-ner versus 0.8069 for LSTM-CRFs).”
Quote in the paperSubstantial claim - Findingown data
Compared to our best system developed during the challenge, the new system improved the F1 score by 0.0235 for subtask 2.
“Compared to our best system developed during the challenge (LSTM-CRFs-EN + BERT-cls + BERT-rel), the new system (BERT-ner-EN + BERT-cls + BERT-rel) improved the F1 scores by 0.0305 and 0.0235 for the 2 subtasks, respectively.”
Quote in the paperSubstantial claim - Findingown data
Our system had relatively lower performances for "parent," "grandparent," "child," and "siblings."
“For concept extraction, our system had relatively lower performances for “parent,” “grandparent,” “child,” and “siblings.””
Quote in the paperNot a substantial claim - Findingown data
The performance improvement of the ensembled model was mainly in precision.
“The performance improvement of the ensembled model was mainly in precision, suggesting that the ensembled models may reduce the classification errors in NER.”
Quote in the paperNot a substantial claim - Findingown data
Adding the context information did not improve the performance.
“However, the experimental results based on the fivefold cross-validation on the training set showed that adding the context information did not improve the performance.”
Quote in the paperSubstantial claim - Findingown data
BERT-ner-EN outperformed the single BERT-ner model by about 2% for family members.
“For example, the BERT-ner-EN, which was ensembled from 5 different BERT-ner models, outperformed the single BERT-ner model by about 2% for family members and about 1.5% for observations.”
Quote in the paperSubstantial claim - Findingown data
BERT-ner-based systems achieved better recalls than LSTM-CRFs.
“Compared to the LSTM-CRFs, the BERT-ner–based systems achieved better recalls.”
Quote in the paperSubstantial claim - Findingown data
The BERT-ner-EN + BERT-cls + BERT-rel system achieved the best F1 score of 0.6760 for the "family member-observation" relation.
“Similar to the concept extraction results, the BERT-ner-EN + BERT-cls + BERT-rel system achieved the best F1 scores of 0.6821 and 0.6760 for the “family member—living status” and “family member—observation” relations, respectively.”
Quote in the paperNot a substantial claim - Findingown data
The confusion matrix showed that our system could efficiently identify family member entities.
“The confusion matrix showed that our system could efficiently identify family member entities.”
Quote in the paperNot a substantial claim - Findingown data
It is challenging for our system to differentiate the nonconcept terms for both family members and observations.
“However, it is challenging for our system to differentiate the nonconcept terms for both family members and observations.”
Quote in the paperNot a substantial claim - Findingown data
The ensemble strategy improved the performance of FH extraction.
“Table 4 also demonstrated that our ensemble strategy improved the performance of FH extraction. For example, the BERT-ner-EN, which was ensembled from 5 different BERT-ner models, outperformed the single BERT-ner model by about 2% for family members and about 1.5% for observations.”
Quote in the paperSubstantial claim - Findingown data
The BERT-ner model achieved better recall for clinical concept extraction compared to LSTM-CRFs (0.8105 vs 0.8087).
“We observed that the BERT-ner model achieved both better precision (0.8060 versus 0.7760) and recall (0.8105 versus 0.8087) for clinical concept extraction compared to the LSTM-CRFs, which is consistent with a recent study by Si et al [52].”
Quote in the paperSubstantial claim - Findingown data
The ensembled BERT model (BERT-ner-EN) improved the concept extraction performance to 0.8249, compared to the single BERT model (F1 score of 0.8083).
“For example, the ensembled BERT model (ie, BERT-ner-EN, which was ensembled from 5 individual BERT-ner models) improved the concept extraction performance to 0.8249, compared to the single BERT model (F1 score of 0.8083).”
Quote in the paperSubstantial claim - Findingown data
The single BERT-ner mode achieved a higher F1 score of 0.8083 than the ensembled LSTM-CRFs model (LSTM-CRFs-EN with F1 score of 0.7944).
“We also noticed that the single BERT-ner mode even achieved a higher F1 score of 0.8083 than the ensembled LSTM-CRFs model (LSTM-CRFs-EN with F1 score of 0.7944).”
Quote in the paperNot a substantial claim - Findingown data
BERT-ner-EN outperformed the single BERT-ner model by about 1.5% for observations.
“For example, the BERT-ner-EN, which was ensembled from 5 different BERT-ner models, outperformed the single BERT-ner model by about 2% for family members and about 1.5% for observations.”
Quote in the paperNot a substantial claim - Findingown data
Our system (LSTM-CRFs-EN + BERT-cls + BERT-rel) achieved the third best performance (F1 of 0.6544) among all the 21 submitted systems from 17 teams that participated in subtask 2.
“We participated in both subtasks and our system (LSTM-CRFs-EN + BERT-cls + BERT-rel) achieved the third best performance (F1 of 0.6544) among all the 21 submitted systems from 17 teams that participated in subtask 2.”
Quote in the paperNot a substantial claim - Findingown data
The BERT-ner-EN + BERT-cls + BERT-rel system achieved the best F1 score of 0.6821 for the "family member-living status" relation.
“Similar to the concept extraction results, the BERT-ner-EN + BERT-cls + BERT-rel system achieved the best F1 scores of 0.6821 and 0.6760 for the “family member—living status” and “family member—observation” relations, respectively.”
Quote in the paperSubstantial claim - Findingreasoning
Option (3) led to a remarkably higher averaged F1 score (0.8975) compared to the other 2 representations (0.8851 and 0.8904).
“Our results showed that option (3) led to a remarkably higher averaged F1 score (0.8975) compared to the other 2 representations (0.8851 and 0.8904).”
Quote in the paperSubstantial claim - Findingown data
The BERT-ner model achieved better precision for clinical concept extraction compared to LSTM-CRFs (0.8060 vs 0.7760).
“We observed that the BERT-ner model achieved both better precision (0.8060 versus 0.7760) and recall (0.8105 versus 0.8087) for clinical concept extraction compared to the LSTM-CRFs, which is consistent with a recent study by Si et al [52].”
Quote in the paperSubstantial claim - Interpretationown data
This study demonstrated the feasibility of utilizing deep learning methods to extract family history information from clinical narratives.
“This study demonstrated the feasibility of utilizing deep learning methods to extract FH information from clinical narratives.”
Quote in the paperSubstantial claim - Interpretationown data
The ensembled models may reduce the classification errors in NER.
“The performance improvement of the ensembled model was mainly in precision, suggesting that the ensembled models may reduce the classification errors in NER.”
Quote in the paperSubstantial claim - Interpretationown data
Ensemble is an effective strategy to further improve the performance of NER.
“Ensemble is an effective strategy to further improve the performance of NER.”
Quote in the paperSubstantial claim - Interpretationown data
This study demonstrated the efficiency of deep learning-based NLP models for extraction of FH.
“This study demonstrated the efficiency of deep learning–based NLP models for extraction of FH.”
Quote in the paperSubstantial claim - Interpretationown data
The training set contains limited annotations of these entities.
“One possible reason is that the training set contains limited annotations of these entities.”
Quote in the paperSubstantial claim - Premisecitation
Most of the previous studies applied rule-based solutions to determine the family roles and family sides.
“Most of the previous studies applied rule-based solutions to determine the family roles and family sides [34].”
Quote in the paperSubstantial claim0 of 1 sources checked- cites [34] SijiaLMajidRMYanshanWLiweiWFeichenSSunyangFHongfangLOverview of the BioCreative/OHNLP 2018 Family History Extraction Task20182020-12-10https://www.researchgate.net/publication/327424806_Overview_of_the_BioCreativeOHNLP_2018_Family_History_Extraction_Task
Not checked in the free run.
- Classified as probably not a substantial claim. 24
- May combine two claims. 8
- The quote only partly states this claim. 2
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationThe LSTM-CRFs architecture has been widely adopted for named entity recognition tasks in both general and clinical domains.
“the long short-term memory-conditional random fields (LSTM-CRFs) architecture [25], which is a modified implementation of the recurrent neural network, has been widely adopted for named entity recognition (NER) tasks in both general and clinical domains.”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [25] Lample, G, 2016, arXiv source
The Introduction and Results sections describe an LSTM-CRF architecture for NER and report results in English, Dutch, German, and Spanish. They do not establish that it was widely adopted, and the paper does not report its use in clinical NER; the clinical-domain portion of the claim is unsupported. (LLM, conf=0.87)
Experimental — accuracy not yet measured
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationBERT demonstrated promising results in several clinical NLP tasks.
“and demonstrated promising results in several clinical NLP tasks [27-29].”
Quote in the paperNot a substantial claim2 of 3 sources checked- cites [27] source
The Results (§4.3; page unavailable) describe BERT as effective on biomedical named entity recognition and report strong performance on a biomedical relation-extraction dataset. The dataset list (§4.1) includes one clinical-text dataset, but the paper does not establish promising BERT results across several specifically clinical NLP tasks; its Conclusion discusses clinical-note and clinical-temporal tasks in connection with BioBERT. (LLM, conf=0.84)
Experimental — accuracy not yet measured - cites [28] Alsentzer, E, 2019, arXiv source
- cites [29] Peng, Y, 2019, arXiv source
Classified as probably not a substantial claim.
PremisecitationPrevious studies have shown that adopting an ensemble method could further improve clinical NER performances.
“Previous studies [38-41] have shown that adopting an ensemble method could further improve the clinical NER performances.”
Quote in the paperSubstantial claim2 of 4 sources checked- cites [38] NayelHShashirekhaHImproving NER for Clinical Texts by Ensemble Approach using Segment Representations2017The 14th International Conference on Natural Language Processing (ICON-2017)2017Kolkata, West Bengal, India197204
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites [39] source
- cites [40] source
- cites [41] source
The Experimental design section says the authors selected an NER ensemble with the highest F1-score on the development set. However, the Results report improvements for relation extraction and the end-to-end pipeline, not a comparison showing that ensembling improved NER performance over a non-ensemble model. Page numbers are unavailable in our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Classified as probably not a substantial claim.
PremisecitationA previous study reported that generating candidate pairs from all combinations of clinical concepts in document level often generates too many negative samples, causing an extremely imbalanced positive-to-negative sample ratio.
“However, a previous study [43] has reported that this method often generates too many negative samples (ie, nonrelation), causing an extremely imbalanced positive-to-negative sample ratio.”
Quote in the paperSubstantial claim1 of 1 sources checked- cites [43] source
The Methods (page unavailable) say that considering any two events or times as a candidate pair would generate a huge number of candidate TLinks and might be unsuitable for classifier training. They do not say that those candidates would predominantly be negative samples or establish an extremely imbalanced positive-to-negative ratio. (LLM, conf=0.83)
Experimental — accuracy not yet measured
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationThe 2018 BioCreative/OHNLP Challenge is the first shared task focusing on family history extraction.
“The 2018 BioCreative/OHNLP Challenge [33,34] is the first shared task focusing on FH extraction.”
Quote in the paperNot a substantial claim1 of 2 sources checked- cites [33] source
The Introduction and “Task 1: family history extraction” section identify family history extraction as a shared task in the 2018 BioCreative/OHNLP Challenge. Neither section says it was the first shared task focused on family history extraction, so the priority claim is not supported by our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measured - cites [34] SijiaLMajidRMYanshanWLiweiWFeichenSSunyangFHongfangLOverview of the BioCreative/OHNLP 2018 Family History Extraction Task20182020-12-10https://www.researchgate.net/publication/327424806_Overview_of_the_BioCreativeOHNLP_2018_Family_History_Extraction_Task
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
PremisecitationDuring the 2018 BioCreative/OHNLP Challenge, Shi et al explored a joint deep learning approach and achieved the best performance among all participated teams.
“During that challenge, Shi et al [35] explored a joint deep learning approach and achieved the best performance among all participated teams.”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [35] source
Classified as probably not a substantial claim.
PremisecitationDeep learning-based approaches have demonstrated superior performances in many NLP tasks.
“More recently, deep learning–based approaches have demonstrated superior performances in many NLP tasks [24].”
Quote in the paperSubstantial claim1 of 1 sources checked- cites [24] Wang, A, 2019, arXiv source
The Baselines section describes neural models evaluated across nine GLUE language-understanding tasks, and Table 2 reports that some outperform the bag-of-words baseline on several tasks. This supports superior performance in parts of the benchmark, but not the broader claim that deep learning approaches are superior across many NLP tasks generally; the paper also says its best models achieve low absolute scores. (LLM, conf=0.82)
Experimental — accuracy not yet measured
Classified as probably not a substantial claim.
PremisecitationPrevious studies developed individual classifiers to handle relations with different cross-distance.
“Previous studies [44,45] developed individual classifiers to handle relations with different cross-distance”
Quote in the paperSubstantial claim1 of 2 sources checkedProbably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationA previous study [53] examined various input encoding and output representation of using BERT for relation extraction, and concluded that using representations aggregated from the start position entity markers was the best practice.
“A previous study [53] examined various input encoding and output representation of using BERT for relation extraction, and concluded that using representations aggregated from the start position entity markers (eg, [S1] and [S2] in Figure 3C) was the best practice.”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [53] Soares, L, 2019, arXiv source
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationThere are preliminary research works demonstrating that generative adversarial networks could be utilized to synthesize clinical text.
“There are preliminary research works demonstrating that generative adversarial networks could be utilized to synthesize clinical text [56].”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [56] source
Probably not a substantial claim: may not pass S3 (load-bearing).
InterpretationcitationThe finding that BERT-ner achieved better precision and recall for clinical concept extraction is consistent with a recent study by Si et al [52].
“We observed that the BERT-ner model achieved both better precision (0.8060 versus 0.7760) and recall (0.8105 versus 0.8087) for clinical concept extraction compared to the LSTM-CRFs, which is consistent with a recent study by Si et al [52].”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [52] source
The Performance Comparison (p. 6) reports higher F1 scores for clinically pretrained BERT models on clinical concept extraction, supporting the broad claim that the citing authors’ result is consistent with Si et al. But that comparison reports F1, not separate precision and recall improvements; the quoted precision and recall values are the citing authors’ own results. (LLM, conf=0.84)
Experimental — accuracy not yet measured
The quote only partly states this claim.
Findingown dataAfter the challenge, the combination of BERT-ner-EN, BERT-cls, and BERT-rel achieved a micro-averaged F1 score of 0.8249 for subtask 1.
“After the challenge, we further explored the BERT model for NER and the combination of BERT-ner-EN, BERT-cls, and BERT-rel achieved better F1 scores of 0.8249 and 0.6775 for the 2 subtasks, respectively.”
- Also stated in: § Results · plain
“After challenge, we further explored new transformer-based models and improved the performances of both subtasks to 0.8249 and 0.6775, respectively.”
Quote in the paperSubstantial claim- Also stated in: § Results · plain
Probably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataOur best submission was ranked fifth in subtask 1 of the 2019 n2c2 challenge.
“Our best submission was ranked fifth in subtask 1 and third in subtask 2.”
Quote in the paperNot a substantial claimThe quote only partly states this claim.
Findingown dataOur system was among the top-ranked systems (3 out of 21) in the 2019 n2c2 challenge.
“Our system was among the top-ranked systems (3 out of 21) in the challenge.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataIn the training set, the cross-distance of candidate pairs ranges from 0 to 10, and 96% of the annotated relations have cross-distances less than 3.
“In the training set, the cross-distance ranges from 0 to 10 and we found that 96% of the annotated relations have cross-distances less than 3.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingnone givenOur system identified some observations not annotated in the test set.
“We also found that our system identified some observations not annotated in the test set.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataThe "parent" entity only appeared once and the "grandparent" entities appeared 6 times in the training data set.
“For example, the “parent” entity only appeared once and the “grandparent” entities appeared 6 times in the training data set.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing), S4 (based). May combine two claims.
Findingnone givenAfter the challenge, we further explored the BERT models for the concept extraction and improved our system in both concept extraction and relation identification.
“After the challenge, we further explored the BERT models for the concept extraction and improved our system in both concept extraction and relation identification.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataIn the sentence "The father also had a history of vascular surgery, a long history of smoking, and has had hip replacement," our system extracted observations of "vascular surgery," "smoking," and "hip replacement," which were annotated in the challenge corpus.
“For example, in the sentence “The father also had a history of vascular surgery, a long history of smoking, and has had hip replacement,” our system extracted observations of “vascular surgery,” “smoking,” and “hip replacement,” which were annotated in the challenge corpus.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataThe experimental results showed that the BERT-based classifiers were feasible to determine the family roles, family sides, negation of observations, and living status scores.
“The experimental results showed that the BERT-based classifiers were feasible to determine the family roles, family sides, negation of observations, and living status scores.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
PremisecitationThe BERT model is a multilayer transformer encoder model implemented using the self-attention mechanism, pretrained by combining masked language modeling and next sentence prediction.
“The BERT model is a multilayer transformer encoder model implemented using the self-attention mechanism [48], which is pretrained by combining the masked language modeling method and the next sentence prediction task.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [48] Vaswani, A, 2017, arXiv
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Classified as probably not a substantial claim. May combine two claims.
InterpretationreasoningExtracting family history is more complicated than merely extracting information of the patients because it involves various family members, their living status, and their diseases or disorders, and family members need to be characterized by family role and family side.
“FH often contains information from different aspects of the patients, including family members, their living status, and their diseases or disorders. Furthermore, patient’s family members need to be characterized by family role (eg, mother) and family side (eg, maternal).”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
PremisecitationBERT has two versions: a BASE version with 12 transformer layers and 110 million parameters, and a LARGE version with 24 transformer layers and 340 million parameters.
“BERT has 2 versions featuring different model sizes, including a BASE version with 12 transformer layers and 110 million parameters, and a LARGE version with 24 transformer layers and 340 million parameters [26].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [26] Devlin, J, 2018, arXiv
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationBERT achieved state-of-the-art performances in 20 NLP benchmarks in the general English domain.
“a newly emerged bidirectional encoder representations from transformers (BERT) model achieved state-of-the-art performances in 20 NLP benchmarks in the general English domain [26]”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [26] Devlin, J, 2018, arXiv
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Classified as probably not a substantial claim.
InterpretationreasoningMost of the key information for classifying the family member attributes is located in the same sentence where the concepts (ie, family member or observation) are located.
“One potential reason may be that most of the key information for classifying the family member attributes is located in the same sentence where the concepts (ie, family member or observation) are located.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S2 (checkable), S4 (based).
Interpretationnone givenExtracting patients' FH information from clinical narratives is a challenging NLP task.
“Extracting patients’ FH information from clinical narratives is a challenging NLP task.”
Quote in the paperNot a substantial claimClassified as probably not a substantial claim.
Study design and conductnone givenOur system is a 2-stage pipeline where the errors generated in the NER will be propagated to relation extraction.
“Second, our system is a 2-stage pipeline where the errors generated in the NER will be propagated to relation extraction.”
Quote in the paperSubstantial claimClassified as probably not a substantial claim.
Interpretationown dataThe representations captured in the special token [CLS] and the representations of the start position markers contain contextual information that is complement to each other.
“A possible reason is that the representations captured in the special token [CLS] and the representations of the start position markers contain contextual information that is complement to each other.”
Quote in the paperSubstantial claimClassified as probably not a substantial claim.
Study design and conductown dataThe experimental results for the context information strategy were based on fivefold cross-validation on the training set.
“However, the experimental results based on the fivefold cross-validation on the training set showed that adding the context information did not improve the performance.”
Quote in the paperSubstantial claim
The paper relies on this without support.
Family history information is not well structured in current electronic health record databases but is often documented as free text in clinical notes.
“However, FH is not well structured in current electronic health record databases but often documented as free text in clinical notes.”
The paper relies on this without support.
Manually extracting patients' family history information is labor-intensive and time-consuming and cannot be scaled up.
“Manually extracting patients’ FH information is a labor-intensive and time-consuming procedure that cannot be scaled up.”
The paper relies on this without support.
Machine learning-based methods have better generalizability than rule-based methods for family role and family side classification.
“here, we applied deep learning–based classification methods as machine learning–based methods have shown a better generalizability.”
The paper relies on this without support.
The BERT model is able to learn both token- and sentence-level representations.
“as the BERT model is able to learn both token- and sentence-level representations.”
The paper relies on this without support.
Patients’ family history is a critical risk factor associated with numerous diseases.
“Patients’ FH is a critical risk factor associated with numerous diseases.”
The paper relies on this without support.
Clinical NLP systems that automatically extract family history from clinical narrative are needed for many clinical studies and applications.
“Clinical NLP systems that automatically extract FH from clinical narrative are needed for many clinical studies and applications.”
The paper relies on this without support.
Family history information has many variations from one patient to another, which makes the development of rules time-consuming and expensive.
“FH information has many variations from one patient to another, which makes the development of rules time-consuming and expensive.”
The paper relies on this without support.
Machine learning–based models generally have a better generalizability than rule-based systems.
“Another advantage of our method is that machine learning–based models generally have a better generalizability than rule-based systems and are easy to scale up.”
The paper relies on this without support.
Machine learning–based models are easy to scale up.
“Another advantage of our method is that machine learning–based models generally have a better generalizability than rule-based systems and are easy to scale up.”
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Examples are described as both unannotated and annotated
MinorThe sentence introducing the examples says the observations were not annotated in the test set, while the example says they were annotated in the challenge corpus.
“We also found that our system identified some observations not annotated in the test set.”
“our system extracted observations of “vascular surgery,” “smoking,” and “hip replacement,” which were annotated in the challenge corpus.”
Test-set observation counts disagree
MinorTable 1 lists 983 test-set observations, but the gold-standard observation row of the test-set confusion matrix totals 977 (799 + 178). The text does not explain the six-observation difference.
“| | | Observations | 930 | 930 | 983 | 983 |”
“| OB | 0 | 799 | 178 |”
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Cited by
Sorted by citations
A large language model for electronic health records
Yang, X., Chen, A., PourNejatian, N., Shin, H. C., Smith, K. E., Parisien, C., Compas, C., Martin, C., Costa, A. B., Flores, M. G., et al. (2022) · npj Digital Medicine · doi:10.1038/s41746-022-00742-2 · Cited by 847 · see citing works
Self-citationA Survey on Recent Named Entity Recognition and Relationship Extraction Techniques on Clinical Texts
Bose, P., Srinivasan, S., Sleeman, W. C., Palta, J. R., Kapoor, R., & Ghosh, P. (2021) · Applied Sciences · doi:10.3390/app11188319 · Cited by 117 · see citing works
Landolsi, M. Y., Hlaoua, L., & Romdhane, L. B. (2022) · Knowledge and Information Systems · doi:10.1007/s10115-022-01779-1 · Cited by 125 · see citing works
“The methods [146, 153] applied on these datasets with fine-tuned BERT have almost the worst results.”
MethodIntegrating LLMs With ITS: Recent Advances, Potentials, Challenges, and Future Directions
Mahmud, D., Hajmohamed, H., Almentheri, S., Alqaydi, S., Aldhaheri, L., Khalil, R. A., & Saeed, N. (2025) · IEEE Transactions on Intelligent Transportation Systems · doi:10.1109/tits.2025.3528116 · Cited by 100 · see citing works
“After being pre-trained on extensive generic text corpora, the GPT parameters were made publicly available [65].”
Yu, Z., Yang, X., Dang, C., Wu, S., Adekkanattu, P., Pathak, J., George, T. J., Hogan, W. R., Guo, Y., Bian, J., et al. (2021) · arXiv · doi:10.48550/arxiv.2108.04949 · Cited by 38 · see citing works
Self-citationGPT for medical entity recognition in Spanish
García-Barragán, Á., Calatayud, A., Pabón, O. S., Provencio, M., Menasalvas, E., & Robles, V. (2024) · Multimedia Tools and Applications · doi:10.1007/s11042-024-19209-5 · Cited by 27 · see citing works
“In recent years, the effectiveness of deep learning-driven methodologies has been prominently demonstrated in the extraction of information from clinical narratives [7, 8], including the cancer domain [9, 10].”
GatorTron: A Large Language Model for Clinical Natural Language Processing
Yang, X., PourNejatian, N., Shin, H. C., Smith, K. E., Parisien, C., Compas, C., Martin, C., Flores, M. G., Zhang, Y., Magoc, T., et al. (2022) · doi:10.1101/2022.02.27.22271257 · Cited by 33 · see citing works
Self-citationUsing Machine Learning to Improve Lead Times in the Identification of Emerging Customer Needs
Kilroy, D. P., Healy, G. F., & Caton, S. J. (2022) · IEEE Access · doi:10.1109/access.2022.3165043 · Cited by 24 · see citing works
Mithun, S., Jha, A. K., Sherkhane, U. B., Jaiswar, V., Purandare, N. C., Rangarajan, V., Dekker, A. L. A. J., Puts, S., Bermejo, I., & Wee, L. (2023) · Informatics in Medicine Unlocked · doi:10.1016/j.imu.2023.101294 · Cited by 26 · see citing works
Goyal, N., & Singh, N. (2024) · Neurocomputing · doi:10.1016/j.neucom.2024.129171 · Cited by 26 · see citing works
Bhate, N. J., Mittal, A., He, Z., & Luo, X. (2023) · 2023 IEEE International Conference on Big Data (BigData) · doi:10.1109/bigdata59044.2023.10386811 · Cited by 18 · see citing works
“With recent advances in natural language processing, other than the rule-based models [2], [12], various transformerbased language models [12], [15], [20] have been developed to extract the social determinants and family history from the narrative clinical notes.”
Yu, Z., Yang, X., Sweeting, G. L., Ma, Y., Stolte, S. E., Fang, R., & Wu, Y. (2022) · BMC Medical Informatics and Decision Making · doi:10.1186/s12911-022-01996-2 · Cited by 16 · see citing works
“Following our previous studies [22, 29, 30] on clinical transformers, we also examined pre-trained transformers from general English corpus (denoted as ‘_general’, e.g., ‘BERT_general’) and clinical transformers pre-trained using clinical notes from the MIMIC-III database [31] (denoted as ‘_mimic’,…”
MethodSelf-citationClinical Concept-Based Radiology Reports Classification Pipeline for Lung Carcinoma
Mithun, S., Jha, A. K., Sherkhane, U. B., Jaiswar, V., Purandare, N. C., Dekker, A. L. A. J., Puts, S., Bermejo, I., Rangarajan, V., Zegers, C. M. L., et al. (2023) · Journal of Imaging Informatics in Medicine · doi:10.1007/s10278-023-00787-z · Cited by 17 · see citing works
“Since then, several BERT models have been used and trained for different NLP tasks [81–83].”
MethodMedical Named Entity Recognition using Surrounding Sequences Matching
Landolsi, M. Y., Romdhane, L. B., & Hlaoua, L. (2022) · Procedia Computer Science · doi:10.1016/j.procs.2022.09.122 · Cited by 13 · see citing works
Landolsi, M. Y., Hlaoua, L., & Romdhane, L. B. (2023) · Multimedia Tools and Applications · doi:10.1007/s11042-023-15080-y · Cited by 14 · see citing works
Shi, J., Morgan, K. L., Bradshaw, R. L., et al. (2022) · JMIR Medical Informatics · doi:10.2196/37842 · Cited by 12 · see citing works
“Previous studies have largely focused on extracting FHH from clinical notes [14,15].”
MethodClinical Relation Extraction Using Transformer-based ModelsPreprint
Yang, X., Yu, Z., Guo, Y., Bian, J., & Wu, Y. (2021) · arXiv (Cornell University) · doi:10.48550/arxiv.2107.08957 · Cited by 23 · see citing works
Self-citationYang, S. C., Yang, X., Lyu, T., Huang, J. G., Chen, A., He, X., Braithwaite, D., Mehta, H. J., Wu, Y., Guo, Y. M., et al. (2024) · Journal of Healthcare Informatics Research · doi:10.1007/s41666-024-00166-5 · Cited by 10 · see citing works
“We also used a unified BERT-based classifier developed by our previous study to handle all candidate pairs with various cross-distances [28, 29].”
MethodSelf-citationPanaite, V., Devendorf, A. R., Finch, D. K., Bouayad, L., Luther, S. L., & Schultz, S. K. (2022) · JMIR Formative Research · doi:10.2196/34436 · Cited by 7 · see citing works
“Using tools built around ontologies (controlled vocabularies), like SNOMED-CT (Systematized Nomenclature of Medicine-Clinical Terms) [11], NLP has enabled researchers to automate the capture of information in clinical narratives [10].”
MethodChiavi, D., Haag, C., Chan, A., Kamm, C. P., Sieber, C., Stanikić, M., Rodgers, S., Pot, C., Kesselring, J., Salmen, A., et al. (2022) · JMIR Medical Informatics · doi:10.2196/37945 · Cited by 6 · see citing works
“Electronic health records and clinical notes have received increasing attention as rich sources of information, which are accessible through the application of NLP techniques [38-40].”
BackgroundDeep Learning for Combating Misinformation in Multicategorical Text Contents
Kozik, R., Mazurczyk, W., Cabaj, K., Pawlicka, A., Pawlicki, M., & Choraś, M. (2023) · Sensors · doi:10.3390/s23249666 · Cited by 6 · see citing works
“• Majority Voting—an ensemble of the BERT model is constructed, and the consensus is established using a hard voting approach (e.g., [34]).”
BackgroundMethodDedhia, P. H., Chen, K., Song, Y., LaRose, E. R., Imbus, J. R., Peissig, P. L., Mendonça, E. A., & Schneider, D. F. (2022) · Methods of Information in Medicine · doi:10.1055/s-0041-1740493 · Cited by 4 · see citing works
The impact of diet and gut microbiota on development, treatment, and prognosis in prostate cancer
Liu, G., Yang, F., Song, W., & Hou, R. (2025) · Frontiers in Nutrition · doi:10.3389/fnut.2025.1621389 · Cited by 3 · see citing works
“Understanding PCa risk requires examining genetic and environmental factors, highlighting the importance of considering genetic predispositions and lifestyle in cancer risk assessment (4, 5).”
Bhatnagar, A., Scherer, R., Samico, G. A., Muralidhar, R., Gutkind, N. E., Mendonça, V. P. V., Medeiros, F. A., & Swaminathan, S. S. (2026) · Translational Vision Science & Technology · doi:10.1167/tvst.15.5.13 · Cited by 2 · see citing works
“12 13–16 Similarly, visit attendance data in EHRs are unreliable, as patient attendance is not well described by no-show percentages.”
Transformer models for Topic Extraction from narratives and biomedical text analysis
Avasthi, S., Sanwal, T., Tripathi, S. L., & Tyagi, M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-15452-2.00013-3 · Cited by 3 · see citing works
Improve Academic Query Resolution through BERT-based Question Extraction from Images
Kamal, N., Avasthi, A., Yadav, S., et al. (2024) · IEEE International Conference on Interdisciplinary Approaches in Technology and Management for Social Innovation (IATMSI) · doi:10.1109/iatmsi60426.2024.10502904 · Cited by 1 · see citing works
Mithun, S., Sherkhane, U. B., Jha, A. K., Shah, S., Purandare, N. C., Rangarajan, V., Dekker, A. L. A. J., Bermejo, I., & Wee, L. (2024) · Research Square · doi:10.21203/rs.3.rs-4443132/v1 · Cited by 1 · see citing works
Combating Misinformation in Social Media and News
Bhimavarapu, U. (2025) · Advances in computational intelligence and robotics book series · doi:10.4018/979-8-3693-9015-3.ch010
Survice-BERT: A BERT Model for Named Entity Recognition in Infectious Disease Surveillance Reports
Cheon, S., & Ahn, I. (2025) · Journal of Bacteriology and Virology · doi:10.4167/jbv.2025.55.3.235
- Authors
- Yang, X., Zhang, H., He, X., Bian, J., & Wu, Y.
- Affiliations
- University of Florida Health (US)
- Corresponding author
- Wu, Yonghui
- Venue
- JMIR Medical Informatics
- Publisher
- JMIR Publications Inc.
- Published
- 2020-12-15
- Volume
- 8
- Issue
- 12
- Pages
- e22982
- ISSN
- 2291-9694 (ISSN-L)
- PMC
- PMC7772072
- OpenAlex
- W3109225475
- Semantic Scholar
- d929ba38335c7dc382074a14ccab707bf3c79f5a
- Cited by
- 29
- References
- 54
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 5 · 2022: 10 · 2021: 3
- FWCI
- 1.24
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- JMIR Medical Informatics (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (submittedVersion, cc-by)
- PubMed Central (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Patient-Centered Outcomes Research Institute (ME-2018C3-14754)
- Nvidia
- University of Florida (UL1 TR001427)
- National Institutes of Health (U18DP006512, ME-2018C3-14754, R21AG061431, UL1 TR001427)
- Centers for Disease Control and Prevention (U18DP006512)
- Clinical and Translational Science Institute, University of Florida (UL1TR001427)
- National Institute on Aging (R21AG061431, P30AG028740)
- National Cancer Institute (R01CA246418)
- National Center for Chronic Disease Prevention and Health Promotion (U18 DP006512)
- National Center for Advancing Translational Sciences (UL1-TR001427)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
- Physical Sciences › Computer Science › Artificial Intelligence › Machine Learning in Healthcare
- Physical Sciences › Computer Science › Artificial Intelligence › Topic Modeling
- Keywords
- clinical text, clinical information extraction, relation identification, concept extraction, BERT, transformer models, ensemble learning, majority voting, clinical text mining
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Claims read by deepseek-v4.1-flash under definition version 3 (extract-v3) on 2026-10-27.
Classified by jev-1.13-20260917 (gold-guideline-v0.2) on 2026-10-27.
Cited sources are checked by gpt-6-sol.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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