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There has recently been increasing appreciation of ancestral effects on cancer genotypes and phenotypes. Consequently, the need has grown for ancestry annotation of cancer-derived molecular data. In response, we created a computational tool termed RAIDS (Robust Ancestry Inference using Data Synthesis). RAIDS is designed to infer genetic ancestry using as input sequence data from a variety of molecular protocols, even in the absence of matching cancer-free genotypes of the patient. Implemented as an R language package, RAIDS is available from the Bioconductor repository. Here we describe functionalities of RAIDS, provide instructions for its installation, give examples of its usage, and explain the interpretation of its output. While RAIDS is being actively developed, the guidance provided here is expected to apply to future refined and expanded versions of this software tool.
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http://dx.doi.org/10.1007/978-1-0716-4566-6_8 | DOI Listing |
Invest Ophthalmol Vis Sci
September 2025
The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, United Kingdom.
Purpose: To define the genetic architecture of foveal morphology and explore its relevance to foveal hypoplasia (FH), a hallmark of developmental macular disorders.
Methods: We applied deep-learning algorithms to quantify foveal pit depth from central optical coherence tomography (OCT) B-scans in 61,269 UK Biobank participants. A genome-wide association study (GWAS) was conducted using REGENIE, adjusting for age, sex, height, and ancestry.
Brain Behav
September 2025
Faculty of Chinese Medicine, Macau University of Science and Technology, Macau, China.
Background: Delirium is an acute cognitive disturbance that is linked to increased healthcare costs, extended hospitalization, and a greater incidence of adverse outcomes, including cognitive decline. Despite its clinical importance, existing strategies for predicting and managing delirium remain inadequate. This study, therefore, sought to investigate the potential relationship between cerebrospinal fluid proteins and delirium via Mendelian randomization (MR) and to identify potential therapeutic targets.
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Oncology, No. 971 Hospital of PLA Navy, Shinan District, Qingdao, China.
Breast cancer is a major health threat to women, with limited effective indicators for early screening and prognosis. The role of sphingosine 1-phosphate receptor 1 (S1PR1) in breast cancer remains controversial. This study aims to explore the potential causal relationship between S1PR1 and breast cancer risk, considering estrogen receptor (ER) status.
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Anorectal, The First Hospital of Hunan University of Chinese Medicine, Changsha, Hunan, China.
Previous studies have suggested a potential preventive effect of aspirin on colorectal cancer (CRC), but the causal relationship remains unclear. Based on the summary statistics of genome-wide association studies, Mendelian randomization (MR) method was used to assess the genetically predicted effect of aspirin use on CRC risk. Inverse variance weighted (IVW) was used as the main analysis method.
View Article and Find Full Text PDFMedicine (Baltimore)
September 2025
Department of Basic Medicine and Law, School of North Sichuan Medical College, Nanchong, Sichuan, China.
Epidemiological studies have already established associations between air pollutants and adverse health outcomes, but the causal associations between air pollutants and chest pain (CP) and gingival pain (GP) remain unclear. This study aimed to explore the potential causal effects of air pollutants on CP and GP. Utilizing genome-wide association study summary statistics from European-ancestry populations, we conducted bidirectional two-sample Mendelian randomization (MR) analyses.
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