BTS: scalable Bayesian Tissue Score for prioritizing GWAS variants and their functional contexts across omics data.

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Tác giả: Luke Carter, Jeffrey Cifello, Kaylyn Clark, Matei Ionita, Pavel P Kuksa, Yuk Yee Leung, Otto Valladares, Li-San Wang

Ngôn ngữ: eng

Ký hiệu phân loại: 352.243 *Cabinet secretariats

Thông tin xuất bản: United States : bioRxiv : the preprint server for biology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 732492

MOTIVATION: statistics from genome-wide association studies (GWAS) are widely used in fine-mapping and colocalization analyses to identify causal variants and their enrichment in functional contexts, such as affected cell types and genomic features. With the expansion of functional genomic (FG) datasets, which now include hundreds of thousands of tracks across various cell and tissue types, it is critical to establish scalable algorithms integrating thousands of diverse FG annotations with GWAS results. RESULTS: We propose BTS (Bayesian Tissue Score), a novel, highly efficient algorithm uniquely designed for 1) identifying affected cell types and functional elements (context-mapping) and 2) fine-mapping potentially causal variants in a context-specific manner using large collections of cell type-specific FG annotation tracks. BTS leverages GWAS summary statistics and annotation-specific Bayesian models to analyze genome-wide annotation tracks, including enhancers, open chromatin, and histone marks. We evaluated BTS on GWAS summary statistics for immune and cardiovascular traits, such as Inflammatory Bowel Disease (IBD), Rheumatoid Arthritis (RA), Systemic Lupus Erythematosus (SLE), and Coronary Artery Disease (CAD). Our results demonstrate that BTS is over AVAILABILITY AND IMPLEMENTATION: Docker image is available at https://hub.docker.com/r/wanglab/bts with pre-installed BTS R package ( https://bitbucket.org/wanglab-upenn/BTS-R ) and BTS GWAS summary statistics analysis pipeline ( https://bitbucket.org/wanglab-upenn/bts-pipeline ).
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