Paper Reading AI Learner

Semi-Automating Knowledge Base Construction for Cancer Genetics

2020-05-17 02:01:43
Somin Wadhwa, Kanhua Yin, Kevin S. Hughes, Byron C. Wallace

Abstract

In this work, we consider the exponentially growing subarea of genetics in cancer. The need to synthesize and centralize this evidence for dissemination has motivated a team of physicians to manually construct and maintain a knowledge base that distills key results reported in the literature. This is a laborious process that entails reading through full-text articles to understand the study design, assess study quality, and extract the reported cancer risk estimates associated with particular hereditary cancer genes (i.e., penetrance). In this work, we propose models to automatically surface key elements from full-text cancer genetics articles, with the ultimate aim of expediting the manual workflow currently in place. We propose two challenging tasks that are critical for characterizing the findings reported cancer genetics studies: (i) Extracting snippets of text that describe \emph{ascertainment mechanisms}, which in turn inform whether the population studied may introduce bias owing to deviations from the target population; (ii) Extracting reported risk estimates (e.g., odds or hazard ratios) associated with specific germline mutations. The latter task may be viewed as a joint entity tagging and relation extraction problem. To train models for these tasks, we induce distant supervision over tokens and snippets in full-text articles using the manually constructed knowledge base. We propose and evaluate several model variants, including a transformer-based joint entity and relation extraction model to extract <germline mutation, risk-estimate>} pairs. We observe strong empirical performance, highlighting the practical potential for such models to aid KB construction in this space. We ablate components of our model, observing, e.g., that a joint model for <germline mutation, risk-estimate> fares substantially better than a pipelined approach.

Abstract (translated)

URL

https://arxiv.org/abs/2005.08146

PDF

https://arxiv.org/pdf/2005.08146.pdf


Tags
3D Action Action_Localization Action_Recognition Activity Adversarial Agent Attention Autonomous Bert Boundary_Detection Caption Chat Classification CNN Compressive_Sensing Contour Contrastive_Learning Deep_Learning Denoising Detection Dialog Diffusion Drone Dynamic_Memory_Network Edge_Detection Embedding Embodied Emotion Enhancement Face Face_Detection Face_Recognition Facial_Landmark Few-Shot Gait_Recognition GAN Gaze_Estimation Gesture Gradient_Descent Handwriting Human_Parsing Image_Caption Image_Classification Image_Compression Image_Enhancement Image_Generation Image_Matting Image_Retrieval Inference Inpainting Intelligent_Chip Knowledge Knowledge_Graph Language_Model Matching Medical Memory_Networks Multi_Modal Multi_Task NAS NMT Object_Detection Object_Tracking OCR Ontology Optical_Character Optical_Flow Optimization Person_Re-identification Point_Cloud Portrait_Generation Pose Pose_Estimation Prediction QA Quantitative Quantitative_Finance Quantization Re-identification Recognition Recommendation Reconstruction Regularization Reinforcement_Learning Relation Relation_Extraction Represenation Represenation_Learning Restoration Review RNN Salient Scene_Classification Scene_Generation Scene_Parsing Scene_Text Segmentation Self-Supervised Semantic_Instance_Segmentation Semantic_Segmentation Semi_Global Semi_Supervised Sence_graph Sentiment Sentiment_Classification Sketch SLAM Sparse Speech Speech_Recognition Style_Transfer Summarization Super_Resolution Surveillance Survey Text_Classification Text_Generation Tracking Transfer_Learning Transformer Unsupervised Video_Caption Video_Classification Video_Indexing Video_Prediction Video_Retrieval Visual_Relation VQA Weakly_Supervised Zero-Shot