Paper List
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Developing the PsyCogMetrics™ AI Lab to Evaluate Large Language Models and Advance Cognitive Science
This paper addresses the critical gap between sophisticated LLM evaluation needs and the lack of accessible, scientifically rigorous platforms that in...
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Equivalence of approximation by networks of single- and multi-spike neurons
This paper resolves the fundamental question of whether single-spike spiking neural networks (SNNs) are inherently less expressive than multi-spike SN...
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The neuroscience of transformers
提出了Transformer架构与皮层柱微环路之间的新颖计算映射,连接了现代AI与神经科学。
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Framing local structural identifiability and observability in terms of parameter-state symmetries
This paper addresses the core challenge of systematically determining which parameters and states in a mechanistic ODE model can be uniquely inferred ...
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Leveraging Phytolith Research using Artificial Intelligence
This paper addresses the critical bottleneck in phytolith research by automating the labor-intensive manual microscopy process through a multimodal AI...
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Neural network-based encoding in free-viewing fMRI with gaze-aware models
This paper addresses the core challenge of building computationally efficient and ecologically valid brain encoding models for naturalistic vision by ...
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Scalable DNA Ternary Full Adder Enabled by a Competitive Blocking Circuit
This paper addresses the core bottleneck of carry information attenuation and limited computational scale in DNA binary adders by introducing a scalab...
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ELISA: An Interpretable Hybrid Generative AI Agent for Expression-Grounded Discovery in Single-Cell Genomics
This paper addresses the critical bottleneck of translating high-dimensional single-cell transcriptomic data into interpretable biological hypotheses ...
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.