Application of BERT to Enable Gene Classification Based on Clinical Evidence.

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...

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Published in:BioMed Research International pp. 1 - 14
Main Authors: Su, Yuhan, Xiang, Hongxin, Xie, Haotian, Yu, Yong, Dong, Shiyan, Yang, Zhaogang, Zhao, Na
Format: equations & formulas research tables/charts Journal Article
Published: Wiley-Blackwell 10/7/2020
Online Access:View this record in EBSCOhost
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      dt: 10/7/2020
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      pub: Wiley-Blackwell
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        10.1155/2020/5491963
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        atl: Application of BERT to Enable Gene Classification Based on Clinical Evidence.
      aug:
        au:
          Su, Yuhan
          Xiang, Hongxin
          Xie, Haotian
          Yu, Yong
          Dong, Shiyan
          Yang, Zhaogang
          Zhao, Na
        affil: National Pilot School of Software, Yunnan University, Kunming, 650091, China
      sug:
        subj:
          Neoplasms Diagnosis
          Mutation Classification
          Deep Learning Methods
          Oncogenes
      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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    language: English
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