Linkage disequilibrium (LD) information from one’s own dataset is considered optimal for downstream analyses such as statistical fine-mapping. However, the computational complexity ( computations for N variants) lead most studies to use external reference panels, such as from 1000 Genomes. To capture LD across all vari...
Rachit Kumar, Pankhuri Singhal, David Y. Zhang et al.· bioRxiv· 0 citations
As the costs of genetic sequencing continue to drop and human genomic biobanks grow in scale, the challenge in genomics has shifted increasingly towards disentangling whether and how associated genetic variants cause disease. Clinical imaging in health-system-based biobanks provides quantitative physiological measures...
K. Keat, D.-Y. Zhang, L. Caruth et al.· medRxiv· 0 citations
Percival is introduced, a CT-native VLM trained on more than 400,000 CT-report pairs from the Penn Medicine BioBank using a dual-encoder symmetric contrastive framework, and evaluated against alternative foundation-model paradigms, indicating that CT-VLMs uncover latent structure aligned with clinical, physiological, a...
C. Beeche, Joonghyun Kim, H. Tavolinejad et al.· npj Digital Medicine· 1 citation
Decomposing the onset prediction task reveals that the model often misclassifies patients who were diagnosed later as positive, suggesting the patient journey embeddings encode disease state more reliably than care timing.
A. Zolensky, Colleen M. Kripke, Karl Keat et al.· medRxiv· 0 citations
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