Weijian Li

Zhihan Zhou, Yanrong Ji, Weijian Li et al.

Decoding the linguistic intricacies of the genome is a crucial problem in biology, and pre-trained foundational models such as DNABERT and Nucleotide Transformer have made significant strides in this area. Existing works have largely hinged on k-mer, fixed-length permutations of A, T, C, and G, as the token of the genome language due to its simplicity. However, we argue that the computation and sample inefficiencies introduced by k-mer tokenization are primary obstacles in developing large genome foundational models. We provide conceptual and empirical insights into genome tokenization, building on which we propose to replace k-mer tokenization with Byte Pair Encoding (BPE), a statistics-based data compression algorithm that constructs tokens by iteratively merging the most frequent co-occurring genome segment in the corpus. We demonstrate that BPE not only overcomes the limitations of k-mer tokenization but also benefits from the computational efficiency of non-overlapping tokenization. Based on these insights, we introduce DNABERT-2, a refined genome foundation model that adapts an efficient tokenizer and employs multiple strategies to overcome input length constraints, reduce time and memory expenditure, and enhance model capability. Furthermore, we identify the absence of a comprehensive and standardized benchmark for genome understanding as another significant impediment to fair comparative analysis. In response, we propose the Genome Understanding Evaluation (GUE), a comprehensive multi-species genome classification dataset that amalgamates $36$ distinct datasets across $9$ tasks, with input lengths ranging from $70$ to $10000$. Through comprehensive experiments on the GUE benchmark, we demonstrate that DNABERT-2 achieves comparable performance to the state-of-the-art model with $21 \times$ fewer parameters and approximately $92 \times$ less GPU time in pre-training.

Weijian Li, Wei Zhu, E. Ray Dorsey et al.

Medication for neurological diseases such as the Parkinson's disease usually happens remotely away from hospitals. Such out-of-lab environments pose challenges in collecting timely and accurate health status data. Individual differences in behavioral signals collected from wearable sensors also lead to difficulties in adopting current general machine learning analysis pipelines. To address these challenges, we present a method for predicting the medication status of Parkinson's disease patients using the public mPower dataset, which contains 62,182 remote multi-modal test records collected on smartphones from 487 patients. The proposed method shows promising results in predicting three medication statuses objectively: Before Medication (AUC=0.95), After Medication (AUC=0.958), and Another Time (AUC=0.976) by examining patient-wise historical records with the attention weights learned through a Transformer model. Our method provides an innovative way for personalized remote health sensing in a timely and objective fashion which could benefit a broad range of similar applications.

Wei Zhu, Haofu Liao, Wenbin Li et al.

Skin disease classification from images is crucial to dermatological diagnosis. However, identifying skin lesions involves a variety of aspects in terms of size, color, shape, and texture. To make matters worse, many categories only contain very few samples, posing great challenges to conventional machine learning algorithms and even human experts. Inspired by the recent success of Few-Shot Learning (FSL) in natural image classification, we propose to apply FSL to skin disease identification to address the extreme scarcity of training sample problem. However, directly applying FSL to this task does not work well in practice, and we find that the problem can be largely attributed to the incompatibility between Cross Entropy (CE) and episode training, which are both commonly used in FSL. Based on a detailed analysis, we propose the Query-Relative (QR) loss, which proves superior to CE under episode training and is closely related to recently proposed mutual information estimation. Moreover, we further strengthen the proposed QR loss with a novel adaptive hard margin strategy. Comprehensive experiments validate the effectiveness of the proposed FSL scheme and the possibility to diagnosis rare skin disease with a few labeled samples.