TY - JOUR
T1 - Application of BERT to Enable Gene Classification Based on Clinical Evidence
AU - Su, Yuhan
AU - Xiang, Hongxin
AU - Xie, Haotian
AU - Yu, Yong
AU - Dong, Shiyan
AU - Yang, Zhaogang
AU - Zhao, Na
N1 - Publisher Copyright:
© 2020 Yuhan Su et al.
PY - 2020
Y1 - 2020
N2 - The identification of profiled cancer-related genes plays an essential role in cancer diagnosis and treatment. Based on literature research, the classification of genetic mutations continues to be done manually nowadays. Manual classification of genetic mutations is pathologist-dependent, subjective, and time-consuming. To improve the accuracy of clinical interpretation, scientists have proposed computational-based approaches for automatic analysis of mutations with the advent of next-generation sequencing technologies. Nevertheless, some challenges, such as multiple classifications, the complexity of texts, redundant descriptions, and inconsistent interpretation, have limited the development of algorithms. To overcome these difficulties, we have adapted a deep learning method named Bidirectional Encoder Representations from Transformers (BERT) to classify genetic mutations based on text evidence from an annotated database. During the training, three challenging features such as the extreme length of texts, biased data presentation, and high repeatability were addressed. Finally, the BERT+abstract demonstrates satisfactory results with 0.80 logarithmic loss, 0.6837 recall, and 0.705 F-measure. It is feasible for BERT to classify the genomic mutation text within literature-based datasets. Consequently, BERT is a practical tool for facilitating and significantly speeding up cancer research towards tumor progression, diagnosis, and the design of more precise and effective treatments.
AB - The identification of profiled cancer-related genes plays an essential role in cancer diagnosis and treatment. Based on literature research, the classification of genetic mutations continues to be done manually nowadays. Manual classification of genetic mutations is pathologist-dependent, subjective, and time-consuming. To improve the accuracy of clinical interpretation, scientists have proposed computational-based approaches for automatic analysis of mutations with the advent of next-generation sequencing technologies. Nevertheless, some challenges, such as multiple classifications, the complexity of texts, redundant descriptions, and inconsistent interpretation, have limited the development of algorithms. To overcome these difficulties, we have adapted a deep learning method named Bidirectional Encoder Representations from Transformers (BERT) to classify genetic mutations based on text evidence from an annotated database. During the training, three challenging features such as the extreme length of texts, biased data presentation, and high repeatability were addressed. Finally, the BERT+abstract demonstrates satisfactory results with 0.80 logarithmic loss, 0.6837 recall, and 0.705 F-measure. It is feasible for BERT to classify the genomic mutation text within literature-based datasets. Consequently, BERT is a practical tool for facilitating and significantly speeding up cancer research towards tumor progression, diagnosis, and the design of more precise and effective treatments.
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U2 - 10.1155/2020/5491963
DO - 10.1155/2020/5491963
M3 - Article
C2 - 33083472
AN - SCOPUS:85094220538
SN - 2314-6133
VL - 2020
JO - BioMed Research International
JF - BioMed Research International
M1 - 5491963
ER -