Principal components (PCs) are widely used in statistics and refer to a relatively small number of uncorrelated variables derived from an initial pool of variables, while explaining as much of the total variance as possible. Also in statistical genetics, principal component analysis (PCA) is a popular technique. To achieve optimal results, a thorough understanding about the different implementations of PCA is required and their impact on study results, compared to alternative approaches. In this review, we focus on the possibilities, limitations and role of PCs in ancestry prediction, genome-wide association studies, rare variants analyses, imputation strategies, meta-analysis and epistasis detection. We also describe several variations of classic PCA that deserve increased attention in statistical genetics applications.
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http://dx.doi.org/10.1093/bib/bby081 | DOI Listing |
Arch Dermatol Res
January 2025
Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Observational studies have shown that the risk of developing herpes zoster (HZ) increases with the use of statins. However, there are many confounding factors in observational studies. Therefore, our Mendelian randomization (MR) study aimed to explore the causal role of lipids in HZ and to assess the causal impact of lipid-lowering drug targets on HZ risk.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Neurology, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou, Guangxi, China.
Benign paroxysmal vertigo (BPV) is a common cause of dizziness, and some patients are comorbid with psychiatric disorders such as depression, requiring intervention with antidepressants. However, the causal association between BPV, depression and antidepressants has not been clearly established. We used two-sample bidirectional Mendelian randomization (MR) to analyze the causal association between BPV, depression, and antidepressants.
View Article and Find Full Text PDFTransl Psychiatry
January 2025
Genetic Epidemiology Group, Department of Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Experiencing a traumatic event may lead to Posttraumatic Stress Disorder (PTSD), including symptoms such as flashbacks and hyperarousal. Individuals suffering from PTSD are at increased risk of cardiovascular disease (CVD), but it is unclear why. This study assesses shared genetic liability and potential causal pathways between PTSD and CVD.
View Article and Find Full Text PDFNat Commun
January 2025
Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
Spatial protein expression technologies can map cellular content and organization by simultaneously quantifying the expression of >40 proteins at subcellular resolution within intact tissue sections and cell lines. However, necessary image segmentation to single cells is challenging and error prone, easily confounding the interpretation of cellular phenotypes and cell clusters. To address these limitations, we present STARLING, a probabilistic machine learning model designed to quantify cell populations from spatial protein expression data while accounting for segmentation errors.
View Article and Find Full Text PDFNat Commun
January 2025
Key Laboratory of Healthy Mariculture for the East China Sea, Ministry of Agriculture and Rural Affairs & Fisheries college, Jimei University, Xiamen, Fujian, People's Republic of China.
Deep phenotyping can enhance the power of genetic analysis, including genome-wide association studies (GWAS), but the occurrence of missing phenotypes compromises the potential of such resources. Although many phenotypic imputation methods have been developed, the accurate imputation of millions of individuals remains challenging. In the present study, we have developed a multi-phenotype imputation method based on mixed fast random forest (PIXANT) by leveraging efficient machine learning (ML)-based algorithms.
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