Advancing multimodal medical capabilities of Gemini

L Yang, S Xu, A Sellergren, T Kohlberger… - arXiv preprint arXiv …, 2024 - arxiv.org
Many clinical tasks require an understanding of specialized data, such as medical images
and genomics, which is not typically found in general-purpose large multimodal models …

MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups

J Jin, J Zhan, J Zhang, R Zhao, J O'Connell, Y Jiang… - Cell Genomics, 2024 - cell.com
Polygenic risk scores (PRSs) are now showing promising predictive performance on a wide
variety of complex traits and diseases, but there exists a substantial performance gap across …

The Polygenic Score Catalog: new functionality and tools to enable FAIR research

SA Lambert, B Wingfield, JT Gibson, L Gil… - medRxiv, 2024 - medrxiv.org
Polygenic scores (PGS) have transformed human genetic research and have multiple
potential clinical applications, including risk stratification for disease prevention and …

AI-based multi-PRS models outperform classical single-PRS models

JH Klau, C Maj, H Klinkhammer, PM Krawitz… - Frontiers in …, 2023 - frontiersin.org
Polygenic risk scores (PRS) calculate the risk for a specific disease based on the weighted
sum of associated alleles from different genetic loci in the germline estimated by regression …

Genetic architecture and socio-environmental risk factors for major depressive disorder in Nepal

KW Choi, JD Tubbs, YH Lee, Y He, K Tsuo… - Psychological …, 2024 - cambridge.org
BackgroundMajor depressive disorder (MDD) is the leading cause of disability globally, with
moderate heritability and well-established socio-environmental risk factors. Genetic studies …

Exploring the role of underrepresented populations in polygenic risk scores for neurodegenerative disease risk prediction

K Step, CAA Ndong Sima, I Mata… - Frontiers in Neuroscience, 2024 - frontiersin.org
Neurodegenerative diseases (NDs) are characterized by the progressive loss of neuronal
function and structure (Lamptey et al., 2022). Additionally, neurodegeneration is associated …

Validation of GenProb‐T1D and its clinical utility for differentiating types of diabetes in a biobank from a US healthcare system

LK Billings, Z Shi, AJ Mulford, J Wei… - Journal of Diabetes …, 2024 - Wiley Online Library
Atypical diabetes with overlapping clinical features of type 1 (T1D) and type 2 (T2D) is
common and challenging diagnostically and for implementing effective treatment. Here, we …

Association of whole-person eigen-polygenic risk scores with Alzheimer's disease

A Kharaghani, ES Tio, M Milic… - Human Molecular …, 2024 - academic.oup.com
Abstract Late-Onset Alzheimer's Disease (LOAD) is a heterogeneous neurodegenerative
disorder with complex etiology and high heritability. Its multifactorial risk profile and large …

Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score

SC Ritchie, HJ Taylor, Y Liang, HD Manikpurage… - medRxiv, 2024 - medrxiv.org
Combining information from multiple GWASs for a disease and its risk factors has proven a
powerful approach for development of polygenic risk scores (PRSs). This may be particularly …

Population Performance and Individual Agreement of Coronary Artery Disease Polygenic Risk Scores

SA Abramowitz, K Boulier, K Keat, KM Cardone… - medRxiv, 2024 - medrxiv.org
Abstract Importance Polygenic risk scores (PRSs) for coronary artery disease (CAD) are a
growing clinical and commercial reality. Whether existing scores provide similar individual …