PURPOSE: The medical literature relevant to germline genetics is growing
exponentially. Clinicians need tools monitoring and prioritizing the literature
to understand the clinical implications of the pathogenic genetic variants. We
developed and evaluated two machine learning models to classify abstracts as
relevant to the penetrance (risk of cancer for germline mutation carriers) or
prevalence of germline genetic mutations. METHODS: We conducted literature
searches in PubMed and retrieved paper titles and abstracts to create an
annotated dataset for training and evaluating the two machine learning
classification models. Our first model is a support vector machine (SVM) which
learns a linear decision rule based on the bag-of-ngrams representation of each
title and abstract. Our second model is a convolutional neural network (CNN)
which learns a complex nonlinear decision rule based on the raw title and
abstract. We evaluated the performance of the two models on the classification
of papers as relevant to penetrance or prevalence. RESULTS: For penetrance
classification, we annotated 3740 paper titles and abstracts and used 60% for
training the model, 20% for tuning the model, and 20% for evaluating the model.
The SVM model achieves 89.53% accuracy (percentage of papers that were
correctly classified) while the CNN model achieves 88.95 % accuracy. For
prevalence classification, we annotated 3753 paper titles and abstracts. The
SVM model achieves 89.14% accuracy while the CNN model achieves 89.13 %
accuracy. CONCLUSION: Our models achieve high accuracy in classifying abstracts
as relevant to penetrance or prevalence. By facilitating literature review,
this tool could help clinicians and researchers keep abreast of the burgeoning
knowledge of gene-cancer associations and keep the knowledge bases for clinical
decision support tools up to date.

使用支持向量机和卷积神经网络两种机器学习模型，对文献进行分类并成功地实现对遗传突变与癌症风险及种群遗传变异的相关性进行预测，并提供新的临床决策支持工具。