Siying Lin
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Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes
Inherited retinal diseases (IRDs) are a leading cause of vision impairment in children and working-age adults in several countries. Retinitis pigmentosa (RP) is the most frequent phenotype. Bi-allelic pathogenic variants in any one of many genes can cause autosomal recessive RP (ARRP).
A self-supervised electrocardiogram foundation model for empowering cardiovascular disease prediction and genetic factor discovery
Abstract Electrocardiogram (ECG) has been widely used in the diagnosis of cardiovascular disease (CVD). Current deep learning methods for CVD prediction using ECG often lack generalizability and interpretability, resulting in limited performance. Here, we have developed a self-supervised Electrocardiogram Large-scale Foundation Model (ECG-LFM) through pre-training over ten million 12-lead ECGs from multiple ECG datasets.
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