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# Biomarker Discovery

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  1. bioRxiv

    Younger breast cancer survival models borrow from older cohorts: LSAT-EN tunes borrowing per omics layer and reaches 0.819 four-year AUC

    Younger breast cancer patients have too few samples to train reliable prognostic models, so LSAT-EN treats older patients as a source cohort and sets the strength of borrowing toward the source coefficients separately for each of six omics layers, while elastic-net regularization selects variables. In TCGA-BRCA, with patients aged 60 and older as source and those under 50 as target, four-year binary survival prediction reached an AUC of 0.819, above 0.774 for pooled fitting, 0.757 for target-only fitting, 0.728 for glmtrans and 0.780 for GAS-EN. In simulation the advantage grew as source-target differences and target-sample scarcity increased.

  2. MutationProjector, pretrained on 30,000+ tumor genomes, predicts immunotherapy response in bladder, lung and melanoma cancers and flags KMT2D and SMARCA4-STK11 as candidate biomarkers

    The authors built MutationProjector, a graph-attention cancer-genome foundation model integrating eight molecular network types, pretrained by masked gene reconstruction on genetic alterations from 30,328 tumors across 10 solid cancer types, then transfer-learned with a random forest on small labeled cohorts; it stratified survival in immunotherapy response prediction with hazard ratios of 0.71 for bladder, 0.74 for lung and 0.59 for melanoma, reached HR = 0.43 in a cisplatin-treated bladder cohort, and proposed KMT2D and SMARCA4-STK11 as candidate biomarkers via attention analysis.

  3. Huang Cheng's dissertation proposes a multimodal retinal AI framework for glaucoma and contributes datasets including GSS-RetVein

    This dissertation integrates multimodal retinal imaging, including fundus photography, OCT, and OCTA, to build a suite of deep learning frameworks spanning vessel segmentation networks, biomarker discovery pipelines, and multimodal fusion models for detecting early glaucomatous changes with high precision, robustness, and interpretability, and contributes several curated datasets including GSS-RetVein as standardized benchmarks for cross-domain validation, reporting that the proposed models outperform existing state-of-the-art approaches across multiple public and clinical datasets with marked improvements in diagnostic sensitivity and specificity.

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