Paper List
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STAR-GO: Improving Protein Function Prediction by Learning to Hierarchically Integrate Ontology-Informed Semantic Embeddings
This paper addresses the core challenge of generalizing protein function prediction to unseen or newly introduced Gene Ontology (GO) terms by overcomi...
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Incorporating indel channels into average-case analysis of seed-chain-extend
This paper addresses the core pain point of bridging the theoretical gap for the widely used seed-chain-extend heuristic by providing the first rigoro...
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Competition, stability, and functionality in excitatory-inhibitory neural circuits
This paper addresses the core challenge of extending interpretable energy-based frameworks to biologically realistic asymmetric neural networks, where...
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Enhancing Clinical Note Generation with ICD-10, Clinical Ontology Knowledge Graphs, and Chain-of-Thought Prompting Using GPT-4
This paper addresses the core challenge of generating accurate and clinically relevant patient notes from sparse inputs (ICD codes and basic demograph...
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Learning From Limited Data and Feedback for Cell Culture Process Monitoring: A Comparative Study
This paper addresses the core challenge of developing accurate real-time bioprocess monitoring soft sensors under severe data constraints: limited his...
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Cell-cell communication inference and analysis: biological mechanisms, computational approaches, and future opportunities
This review addresses the critical need for a systematic framework to navigate the rapidly expanding landscape of computational methods for inferring ...
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Generating a Contact Matrix for Aged Care Settings in Australia: an agent-based model study
This study addresses the critical gap in understanding heterogeneous contact patterns within aged care facilities, where existing population-level con...
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Emergent Spatiotemporal Dynamics in Large-Scale Brain Networks with Next Generation Neural Mass Models
This work addresses the core challenge of understanding how complex, brain-wide spatiotemporal patterns emerge from the interaction of biophysically d...
Mapping of Lesion Images to Somatic Mutations
University of Illinois at Chicago | University of Texas MD Anderson Cancer Center
30秒速读
IN SHORT: This paper addresses the critical bottleneck of delayed genetic analysis in cancer diagnosis by predicting a patient's full somatic mutation profile directly from medical lesion images, enabling earlier targeted treatment decisions.
核心创新
- Methodology Proposes LLOST, a novel architecture with dual VAEs and a separate, cancer-type-conditioned shared latent space, coupled with domain-specific conditional Normalizing Flow priors to handle heterogeneous data distributions.
- Methodology Introduces a modality-invariant point cloud representation for lesion images, overcoming challenges of multi-slice, multi-modal (CT/MRI) medical imaging data.
- Methodology Employs a Negative-Binomial likelihood within the mutation VAE to effectively model the high-dimensional, sparse, and discrete nature of somatic mutation count data.
主要结论
- LLOST successfully learns a shared latent representation between lesion point clouds and somatic mutation counts, capturing cancer-type-specific patterns across these disparate domains.
- The model demonstrates predictive capability for both mutation occurrence (binary prediction) and mutation counts, validated on a dataset of 1342 patients across 18 cancer types from TCGA/TCIA.
- The use of conditional Normalizing Flow priors and a separate shared latent space allows the model to account for and bridge the complex, distinct distributions of imaging and genomic data.
摘要: Medical imaging is a critical initial tool used by clinicians to determine a patient’s cancer diagnosis, allowing for faster intervention and more reliable patient prognosis. At subsequent stages of patient diagnosis, genetic information is extracted to help select specific patient treatment options. As the efficacy of cancer treatment often relies on early diagnosis and treatment, we build a deep latent variable model to determine patients’ somatic mutation profiles based on their corresponding medical images. We first introduce a point cloud representation of lesions images to allow for invariance to the imaging modality. We then propose, LLOST, a model with dual variational autoencoders coupled together by a separate shared latent space that unifies features from the lesion point clouds and counts of distinct somatic mutations. Therefore our model consists of three latent space, each of which is learned with a conditional normalizing flow prior to account for the diverse distributions of each domain. We conduct qualitative and quantitative experiments on de-identified medical images from The Cancer Imaging Archive and the corresponding somatic mutations from the Pan Cancer dataset of The Cancer Genomic Archive. We show the model’s predictive performance on the counts of specific mutations as well as it’s ability to accurately predict the occurrence of mutations. In particular, shared patterns between the imaging and somatic mutation domain that reflect cancer type. We conclude with a remark on how to improve the model and possible future avenues of research to include other genetic domains.