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Phenotype-driven gene prioritization is a critical process in the diagnosis of rare genetic disorders for identifying and ranking potential disease-causing genes based on observed physical traits or phenotypes. While traditional approaches…

Quantitative Methods · Quantitative Biology 2024-04-04 Junyoung Kim , Jingye Yang , Kai Wang , Chunhua Weng , Cong Liu

Clinical prediction is an essential task in the healthcare industry. However, the recent success of transformers, on which large language models are built, has not been extended to this domain. In this research, we explore the use of…

Computation and Language · Computer Science 2023-05-08 Zekai Chen , Mariann Micsinai Balan , Kevin Brown

Automated generation of diagnostic pathology reports directly from whole slide images (WSIs) is an emerging direction in computational pathology. Translating high-resolution tissue patterns into clinically coherent text remains difficult…

Computer Vision and Pattern Recognition · Computer Science 2025-12-16 Noorul Wahab , Nasir Rajpoot

Protein language models (PLMs) face a fundamental divide: masked language models (MLMs) excel at fitness prediction while causal models enable generation, forcing practitioners to maintain separate architectures. We introduce…

Machine Learning · Computer Science 2026-02-03 Furkan Eris

The classification of genetic variants, particularly Variants of Uncertain Significance (VUS), poses a significant challenge in clinical genetics and precision medicine. Large Language Models (LLMs) have emerged as transformative tools in…

Domain adaptive pretraining, i.e. the continued unsupervised pretraining of a language model on domain-specific text, improves the modelling of text for downstream tasks within the domain. Numerous real-world applications are based on…

Computation and Language · Computer Science 2021-09-15 Rasmus Kær Jørgensen , Mareike Hartmann , Xiang Dai , Desmond Elliott

High-throughput preclinical perturbation screens, where the effects of genetic, chemical, or environmental perturbations are systematically tested on disease models, hold significant promise for machine learning-enhanced drug discovery due…

We present two deep generative models based on Variational Autoencoders to improve the accuracy of drug response prediction. Our models, Perturbation Variational Autoencoder and its semi-supervised extension, Drug Response Variational…

Machine Learning · Statistics 2017-07-07 Ladislav Rampasek , Daniel Hidru , Petr Smirnov , Benjamin Haibe-Kains , Anna Goldenberg

The conditional generation of proteins with desired functions is a key goal for generative models. Existing methods based on prompting of protein language models (PLMs) can generate proteins conditioned on a target functionality, such as a…

Biomolecules · Quantitative Biology 2025-06-13 Jason Yang , Aadyot Bhatnagar , Jeffrey A. Ruffolo , Ali Madani

Pre-trained language models (PLMs) have been the de facto paradigm for most natural language processing (NLP) tasks. This also benefits biomedical domain: researchers from informatics, medicine, and computer science (CS) communities propose…

Computation and Language · Computer Science 2023-07-18 Benyou Wang , Qianqian Xie , Jiahuan Pei , Zhihong Chen , Prayag Tiwari , Zhao Li , Jie fu

Pathology reports are structured, multi-granular documents encoding diagnostic conclusions, histological grades, and ancillary test results across one or more anatomical sites; yet existing pathology vision-language models (VLMs) reduce…

Computer Vision and Pattern Recognition · Computer Science 2026-03-23 Ruicheng Yuan , Zhenxuan Zhang , Anbang Wang , Liwei Hu , Xiangqian Hua , Yaya Peng , Jiawei Luo , Guang Yang

Network-based computational approaches to predict unknown genes associated with certain diseases are of considerable significance for uncovering the molecular basis of human diseases. In this paper, we proposed a kind of new…

Molecular Networks · Quantitative Biology 2018-11-14 Ke Hu , Jing-Bo Hu , Ju Xiang , Hui-Jia Li , Yan Zhang , Shi Chen , Chen-He Yi

Recently, extensive deep learning architectures and pretraining strategies have been explored to support downstream protein applications. Additionally, domain-specific models incorporating biological knowledge have been developed to enhance…

Biomolecules · Quantitative Biology 2026-03-03 Shuo Yan , Yuliang Yan , Bin Ma , Chenao Li , Haochun Tang , Jiahua Lu , Minhua Lin , Yuyuan Feng , Enyan Dai

Pretraining large neural language models, such as BERT, has led to impressive gains on many natural language processing (NLP) tasks. However, most pretraining efforts focus on general domain corpora, such as newswire and Web. A prevailing…

Computation and Language · Computer Science 2021-09-20 Yu Gu , Robert Tinn , Hao Cheng , Michael Lucas , Naoto Usuyama , Xiaodong Liu , Tristan Naumann , Jianfeng Gao , Hoifung Poon

Negation is a fundamental linguistic operation in clinical reporting, yet vision-language models (VLMs) frequently fail to distinguish affirmative from negated medical statements. To systematically characterize this limitation, we introduce…

Computer Vision and Pattern Recognition · Computer Science 2026-02-16 Ali Abbasi , Mehdi Taghipour , Rahmatollah Beheshti

For predicting cancer survival outcomes, standard approaches in clinical research are often based on two main modalities: pathology images for observing cell morphology features, and genomic (e.g., bulk RNA-seq) for quantifying gene…

Computer Vision and Pattern Recognition · Computer Science 2024-03-19 Hongxiao Wang , Yang Yang , Zhuo Zhao , Pengfei Gu , Nishchal Sapkota , Danny Z. Chen

Recent advances in deep learning have completely transformed the domain of computational pathology (CPath). More specifically, it has altered the diagnostic workflow of pathologists by integrating foundation models (FMs) and vision-language…

Machine Learning · Computer Science 2024-09-19 Dibaloke Chanda , Milan Aryal , Nasim Yahya Soltani , Masoud Ganji

Modern Protein Language Models (PLMs) apply transformer-based model architectures from natural language processing to biological sequences, predicting a variety of protein functions and properties. However, protein language has key…

Machine Learning · Computer Science 2026-02-25 Anna Hart , Chi Han , Jeonghwan Kim , Huimin Zhao , Heng Ji

The accelerated adoption of digital pathology and advances in deep learning have enabled the development of powerful models for various pathology tasks across a diverse array of diseases and patient cohorts. However, model training is often…

Pre-trained language models have attracted increasing attention in the biomedical domain, inspired by their great success in the general natural language domain. Among the two main branches of pre-trained language models in the general…

Computation and Language · Computer Science 2023-04-04 Renqian Luo , Liai Sun , Yingce Xia , Tao Qin , Sheng Zhang , Hoifung Poon , Tie-Yan Liu