arXiv AI By Hyunkyung Han, Min Jung Kim

Recovery Rates Are Not Comparable Across Transcription Factors: Chance Correction for Attribution Evaluation

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arXiv Machine Learning
Oct 9

Predictive Multiplicity in Cell-Fate Assignment: Label-Free Rashomon Sets and the Limits of Per-Cell Certification

The paper introduces FateMultiplicity, a label‑free framework that builds a Rashomon set of statistically admissible models for single‑cell trajectory inference by cross‑fitting held‑out genes and non‑inferiority testing. It shows that model multiplicity is large and depends more on the diversity of the model space than its size, and that per‑cell certified fate margins do not improve assignment reliability compared to baseline models. The study also identifies two robust constructions— a margin‑erosion ratio for branch‑point detection and a certification filter that reduces disagreement with clonal outcomes— that merit further investigation.

By Arjun Bhupatiraju, Abhiram Bhupatiraju
arXiv AI
Oct 9

Unlocking the Regulatory Genome by ARGUS: An Evidence-Constrained Agentic Framework for Interpreting Single Nucleotide Variants

ARGUS is an evidence‑constrained framework that separates deterministic biological computation from large‑language‑model reasoning to interpret single nucleotide variants in noncoding regulatory regions. It uses 458 DNABERT‑based transcription factor binding models within a hypothesis‑directed loop where a planner selects evidence sources, a verifier interprets observations, and the investigation path adapts to uncertainty. In a case study of variant rs6983267, ARGUS generated divergent investigative trajectories for four transcription factors, demonstrating how real experimental data from ADASTRA, JASPAR, and ENCODE cCRE guide conclusions and how the LLM planner can reduce unnecessary tool calls.

By Pratik Dutta, Matthew B. Obusan, Max Chao, Rekha Sathian, Nimisha Papineni, Ramana V. Davuluri
arXiv AI
Oct 31

GenoBERT: A Language Model for Accurate Genotype Imputation

GenoBERT is a transformer-based, reference‑free model that tokenizes phased genotypes and uses self‑attention to capture short‑ and long‑range linkage disequilibrium. Benchmarking on the Louisiana Osteoporosis Study and the 1000 Genomes Project shows GenoBERT outperforms four baseline methods, achieving an overall imputation accuracy of about 0.98 at up to 25% missing data and maintaining r² > 0.90 even at 50% missingness across multiple ancestries. The model’s 128‑SNP context window is sufficient to capture local correlation structures, and it remains robust to small sample sizes and weak LD, offering a scalable solution for genotype imputation without relying on reference panels.

By Lei Huang, Chuan Qiu, Kuan-Jui Su, Anqi Liu, Yun Gong, Weiqiang Lin, Lindong Jiang, Chen Zhao, Meng Song, Jeffrey Deng, Qing Tian, Zhe Luo, Ping Gong, Hui Shen, Chaoyang Zhang, Hong-Wen Deng