#3 · ML / AI methods
Explicit statistical models convert bulk and single-cell omics into inferential claims
The dominant thread is explicit model specification that converts measured omics variables into inferential claims, though the items are heterogeneous and not all share it. Statescope applies a Bayesian deconvolution anchored on DNA-derived malignant purity to recover tumor cell states, including states absent from single-cell references. CellTFusion couples cell type deconvolution with transcriptional regulatory network analysis to identify multicellular states from bulk RNA-seq, while COMPASS uses a concept bottleneck transformer to predict immunotherapy response from bulk tumor transcriptomes. miRSiC applies an interpretable LightGBM model to infer miRNA expression from transcription factor and target gene features. What is new is that model structure itself, whether Bayesian, bottleneck, network, or gradient-boosted, carries the inferential weight, with calibration against orthogonal measurements such as DNA purity.
Published papers
Decoding cancer circulating transcriptomic signatures with language models.
GeneLLM, a Transformer that models nucleotide sequences of human-mapped plasma cfRNA reads without gene quantification, reports ROC-AUC 0.9250-0.9962 for…
Statescope: an integrative deconvolution framework for discovering cell states in tumors.
Statescope is a Bayesian deconvolution framework that uses DNA-derived malignant purity to infer cell states, including states absent from single-cell…
Generalizable AI predicts immunotherapy outcomes across cancers and treatments.
COMPASS, a pan-cancer foundation model with a concept bottleneck transformer, predicts immunotherapy response from bulk tumor transcriptomes via 44 immune…
Deep learning models for cell cycle phase prediction from single-cell RNA sequencing data.
Benchmarks traditional and deep learning models for predicting cell cycle phase from scRNA-seq, trained on consensus labels and tested on independent human and…
Exploring per-base quality scores as a surrogate marker of cell-free DNA fragmentome.
Per-base quality scores as alignment-free cfDNA fragmentomic surrogate; leave-one-batch-out AUC 0.81 separating cancer from controls.
MRDsteer: quality-aware AI-driven closed-loop optimization enhances ctDNA-based minimal residual disease detection.
MRDsteer, an AI-driven closed-loop agent, monitors variant-calling reliability in ctDNA analysis and triggers targeted re-calling, improving ultra-low-VAF MRD…
miRSiC: a regulatory-aware machine learning framework for microRNA expression inference across bulk and single-cell transcriptomes.
miRSiC is an interpretable LightGBM framework inferring miRNA expression from TF and validated target gene features, tested on TCGA breast cancer and…
Preprints
SHIFT: Survival Prediction from Incomplete and Heterogeneous Genomic Data
SHIFT is a missingness-aware transformer for survival prediction from incomplete genomic panels, using masked self-attention and variable-rate feature masking,…
Computing tumor specificity of cancer antigen targets by k-mer indexing of healthy tissue transcriptomes
k4neo uses k-mer indexing of raw RNA-seq reads across 18,960 healthy-tissue samples to compute tumor specificity of transcript variants for cancer antigen…
CellTFusion: a transcriptional regulatory network framework for the identification of functional multicellular states from bulk RNA-seq data
CellTFusion integrates cell type deconvolution with transcriptional regulatory network analysis to identify functional multicellular TME states from bulk…
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