Weiqiang Lin

Shan Cao, Qunsheng Ruan, Qingfeng Wu et al.

Non-alcoholic fatty liver disease (NAFLD) is a clinicopathological syndrome characterized by hepatic steatosis resulting from the exclusion of alcohol and other identifiable liver-damaging factors. It has emerged as a leading cause of chronic liver disease worldwide. Currently, the conventional methods for NAFLD detection are expensive and not suitable for users to perform daily diagnostics. To address this issue, this study proposes a non-invasive and interpretable NAFLD diagnostic method, the required user-provided indicators are only Gender, Age, Height, Weight, Waist Circumference, Hip Circumference, and tongue image. This method involves merging patients' physiological indicators with tongue features, which are then input into a fusion network named SelectorNet. SelectorNet combines attention mechanisms with feature selection mechanisms, enabling it to autonomously learn the ability to select important features. The experimental results show that the proposed method achieves an accuracy of 77.22\% using only non-invasive data, and it also provides compelling interpretability matrices. This study contributes to the early diagnosis of NAFLD and the intelligent advancement of TCM tongue diagnosis. The project mentioned in this paper is currently publicly available.

Lei Huang, Chuan Qiu, Kuan-Jui Su et al.

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.