Jiyang Li

Yifeng Jiao, Yuchen Liu, Yu Zhang et al.

The advent of single-cell Assay for Transposase-Accessible Chromatin using sequencing (scATAC-seq) offers an innovative perspective for deciphering regulatory mechanisms by assembling a vast repository of single-cell chromatin accessibility data. While foundation models have achieved significant success in single-cell transcriptomics, there is currently no foundation model for scATAC-seq that supports zero-shot high-quality cell identification and comprehensive multi-omics analysis simultaneously. Key challenges lie in the high dimensionality and sparsity of scATAC-seq data, as well as the lack of a standardized schema for representing open chromatin regions (OCRs). Here, we present ChromFound, a foundation model tailored for scATAC-seq. ChromFound utilizes a hybrid architecture and genome-aware tokenization to effectively capture genome-wide long contexts and regulatory signals from dynamic chromatin landscapes. Pretrained on 1.97 million cells from 30 tissues and 6 disease conditions, ChromFound demonstrates broad applicability across 6 diverse tasks. Notably, it achieves robust zero-shot performance in generating universal cell representations and exhibits excellent transferability in cell type annotation and cross-omics prediction. By uncovering enhancer-gene links undetected by existing computational methods, ChromFound offers a promising framework for understanding disease risk variants in the noncoding genome.

Hui Lin, Jiyang Li, Ramy Hussein et al.

Hypertension is a leading risk factor for cardiovascular diseases. Traditional blood pressure monitoring methods are cumbersome and inadequate for continuous tracking, prompting the development of PPG-based cuffless blood pressure monitoring wearables. This study leverages deep learning models, including ResNet and Transformer, to analyze wrist PPG data collected with a smartwatch for efficient hypertension risk screening, eliminating the need for handcrafted PPG features. Using the Home Blood Pressure Monitoring (HBPM) longitudinal dataset of 448 subjects and five-fold cross-validation, our model was trained on over 68k spot-check instances from 358 subjects and tested on real-world continuous recordings of 90 subjects. The compact ResNet model with 0.124M parameters performed significantly better than traditional machine learning methods, demonstrating its effectiveness in distinguishing between healthy and abnormal cases in real-world scenarios.