Paper List
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Formation of Artificial Neural Assemblies by Biologically Plausible Inhibition Mechanisms
This work addresses the core limitation of the Assembly Calculus model—its fixed-size, biologically implausible k-WTA selection process—by introducing...
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How to make the most of your masked language model for protein engineering
This paper addresses the critical bottleneck of efficiently sampling high-quality, diverse protein sequences from Masked Language Models (MLMs) for pr...
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Module control in youth symptom networks across COVID-19
This paper addresses the core challenge of distinguishing whether a prolonged societal stressor (COVID-19) fundamentally reorganizes the architecture ...
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JEDI: Jointly Embedded Inference of Neural Dynamics
This paper addresses the core challenge of inferring context-dependent neural dynamics from noisy, high-dimensional recordings using a single unified ...
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ATP Level and Phosphorylation Free Energy Regulate Trigger-Wave Speed and Critical Nucleus Size in Cellular Biochemical Systems
This work addresses the core challenge of quantitatively predicting how the cellular energy state (ATP level and phosphorylation free energy) governs ...
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Packaging Jupyter notebooks as installable desktop apps using LabConstrictor
This paper addresses the core pain point of ensuring Jupyter notebook reproducibility and accessibility across different computing environments, parti...
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SNPgen: Phenotype-Supervised Genotype Representation and Synthetic Data Generation via Latent Diffusion
This paper addresses the core challenge of generating privacy-preserving synthetic genotype data that maintains both statistical fidelity and downstre...
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Continuous Diffusion Transformers for Designing Synthetic Regulatory Elements
This paper addresses the challenge of efficiently generating novel, cell-type-specific regulatory DNA sequences with high predicted activity while min...
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.