Lei Huang, Chuan Qiu, Kuan-Jui Su, Anqi Liu, Yun Gong, Weiqiang Lin, Lindong Jiang, Chen Zhao 等 16 位作者
Genotype imputation enables dense variant coverage for genome-wide association and risk-prediction studies, yet conventional reference-panel methods remain limited by ancestry bias and reduced rare-variant accuracy. We present Genotype Bidirectional Encoder Representations from Transformers (GenoBERT), a transformer-based, reference-free framework that tokenizes phased genotypes and uses a self-attention mechanism to capture both short- and long-range linkage disequilibrium (LD) dependencies. Benchmarking on two independent datasets including the Louisiana Osteoporosis Study (LOS) and the 1000 Genomes Project (1KGP) across ancestry groups and multiple genotype missingness levels (5-50%) shows that GenoBERT achieves the highest overall accuracy compared to four baseline methods (Beagle5.4, SCDA, BiU-Net, and STICI). At practical sparsity levels (up to 25% missing), GenoBERT attains high overall imputation accuracy ($r^2 approx 0.98$) across datasets, and maintains robust performance ($r^2 > 0.90$) even at 50% missingness. Experimental results across different ancestries confirm consistent gains across datasets, with resilience to small sample sizes and weak LD. A 128-SNP (single-nucleotide polymorphism) context window (approximately 100 Kb) is validated through LD-decay analyses as sufficient to capture local correlation structures. By eliminating reference-panel dependence while preserving high accuracy, GenoBERT provides a scalable and robust solution for genotype imputation and a foundation for downstream genomic modeling.
Mobile GUI agents powered by LMMs can perceive screens and follow instructions, yet existing benchmarks largely target short, linear workflows and step-level accuracy, offering limited insight into long-horizon planning and decision-making under branching structures. We present DAC-Bench, a decision-aware benchmark with compositional tasks comprising 830 episodes and 11,345 action steps across 35 applications on Android and iOS. Tasks are organized into Sequential, Conjunctive, Conditional, and Hierarchical structures, reflecting real-world multi-step and branching interaction patterns. To complement standard step-level evaluation, we introduce weighted longest common subsequence to capture length-sensitive progress and decision accuracy for branch correctness. Evaluations across 7 diverse agents show substantial performance degradation compared to prior benchmarks, with success rates dropping below 5% on 6–8 step tasks and branch accuracy averaging 38%, highlighting challenges in conditional decision-making. By exposing these failure modes, DAC-Bench provides a challenging and diagnostic benchmark for advancing decision-aware mobile GUI agents. Our code and dataset are available at: https://github.com/YuqingZhangMirror12/DAC-Bench.
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cs.CL
Proceedings of the 64th Annual Meeting of the Association for Computational Linguistics (Volume 1: Long Papers) · 2026 · 正式发表