相关论文: Unified Representation of Genomic and Biomedical C…

Recent advances in large language models (LLMs) and biomedical foundation models (BioFMs) have achieved strong results in biological text reasoning, molecular modeling, and single-cell analysis, yet they remain siloed in disjoint embedding…

Neural language models are a powerful tool to embed words into semantic vector spaces. However, learning such models generally relies on the availability of abundant and diverse training examples. In highly specialised domains this…

Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Single-cell RNA sequencing has transformed biology by enabling the measurement of gene expression at cellular resolution, providing information for cell types, states, and disease contexts. Recently, single-cell foundation models have…

Objective: Currently, a major limitation for natural language processing (NLP) analyses in clinical applications is that a concept can be referenced in various forms across different texts. This paper introduces Multi-Ontology Refined…

Text embeddings have become an essential part of a variety of language applications. However, methods for interpreting, exploring and reversing embedding spaces are limited, reducing transparency and precluding potentially valuable…

Medical concept normalization helps in discovering standard concepts in free-form text i.e., maps health-related mentions to standard concepts in a vocabulary. It is much beyond simple string matching and requires a deep semantic…

Biomedical Question Answering aims to obtain an answer to the given question from the biomedical domain. Due to its high requirement of biomedical domain knowledge, it is difficult for the model to learn domain knowledge from limited…

Machine learning in healthcare requires effective representation of structured medical codes, but current methods face a trade off: knowledge graph based approaches capture formal relationships but miss real world patterns, while data…

Single-cell RNA-seq foundation models achieve strong performance on downstream tasks but remain black boxes, limiting their utility for biological discovery. Recent work has shown that sparse dictionary learning can extract concepts from…

Machine learning holds tremendous promise for transforming the fundamental practice of scientific discovery by virtue of its data-driven nature. With the ever-increasing stream of research data collection, it would be appealing to…

Beyond generating long and topic-coherent paragraphs in traditional captioning tasks, the medical image report composition task poses more task-oriented challenges by requiring both the highly-accurate medical term diagnosis and multiple…

Representation learning methods that transform encoded data (e.g., diagnosis and drug codes) into continuous vector spaces (i.e., vector embeddings) are critical for the application of deep learning in healthcare. Initial work in this area…

Natural language processing (NLP) is utilized in a wide range of fields, where words in text are typically transformed into feature vectors called embeddings. BioConceptVec is a specific example of embeddings tailored for biology, trained…

Sequence modelling approaches for epigenetic profile prediction have recently expanded in terms of sequence length, model size, and profile diversity. However, current models cannot infer on many experimentally feasible tissue and assay…

Unifying multimodal understanding and generation is a compelling frontier that is beginning to emerge in the medical field. However, the limited existing unified medical models typically treat understanding and generation as disjoint…

Multi-modal datasets, like those involving images, often miss the detailed descriptions that properly capture the rich information encoded in each item. This makes answering complex natural language queries a major challenge in this domain.…

Integrating histopathology with spatial transcriptomics (ST) provides a powerful opportunity to link tissue morphology with molecular function. Yet most existing multimodal approaches rely on a small set of highly variable genes, which…

Genetic variants (GVs) are defined as differences in the DNA sequences among individuals and play a crucial role in diagnosing and treating genetic diseases. The rapid decrease in next generation sequencing cost has led to an exponential…

In this work, we consider the medical concept normalization problem, i.e., the problem of mapping a disease mention in free-form text to a concept in a controlled vocabulary, usually to the standard thesaurus in the Unified Medical Language…