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Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

Computational Engineering, Finance, and Science · Computer Science 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…

Background: Single-cell RNA sequencing (scRNA-seq) yields valuable insights about gene expression and gives critical information about complex tissue cellular composition. In the analysis of single-cell RNA sequencing, the annotations of…

Genomics · Quantitative Biology 2023-03-29 Xiaowen Cao , Li Xing , Elham Majd , Hua He , Junhua Gu , Xuekui Zhang

Because of the recent advances of genome sequences, a large number of human genome sequences are available for the study of human genetics. Genome-wide association studies typically focus on associations between single-nucleotide…

Populations and Evolution · Quantitative Biology 2019-10-11 Kazuharu Misawa

While linear mixed model (LMM) has shown a competitive performance in correcting spurious associations raised by population stratification, family structures, and cryptic relatedness, more challenges are still to be addressed regarding the…

Machine Learning · Computer Science 2023-02-15 Wenting Ye , Xiang Liu , Tianwei Yue , Wenping Wang

The mainstream of research in genetics, epigenetics and imaging data analysis focuses on statistical association or exploring statistical dependence between variables. Despite their significant progresses in genetic research, understanding…

Genomics · Quantitative Biology 2018-05-14 Rong Jiao , Nan Lin , Zixin Hu , David A Bennett , Li Jin , Momiao Xiong

Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

Applications · Statistics 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

Sequencing costs currently prohibit the application of single-cell mRNA-seq to many biological and clinical analyses. Targeted single-cell mRNA-sequencing reduces sequencing costs by profiling reduced gene sets that capture biological…

Genomics · Quantitative Biology 2022-02-15 Xiaoqiao Chen , Sisi Chen , Matt Thomson

Factorial designs are frequently used in different fields of science, e.g. psychological, medical or biometric studies. Standard approaches, as the ANOVA $F$-test, make different assumptions on the distribution of the error terms, the…

Methodology · Statistics 2018-02-21 Maria Umlauft

Accelerometer data is commonplace in physical activity research, exercise science, and public health studies, where the goal is to understand and compare physical activity differences between groups and/or subject populations, and to…

Applications · Statistics 2023-06-14 Rui Xie , Lulu Chen , Joon-Hyuk Park , Jeffrey Stout , Ladda Thiamwong

Principal Component analysis (PCA) is a useful statistical technique that is commonly used for multivariate analysis of correlated variables. It is usually applied as a dimension reduction method: the top principal components (PCs)…

The present study defines a new statistic for detecting laboratory effects in the analysis of ordinal variation (ORDANOVA). The ORDANOVA is an analysis method similar to one-way analysis of variance for analysing ordinal data obtained from…

Applications · Statistics 2022-02-10 Jun-ichi Takeshita , Yuto Arai , Mayu Ogawa , Xiao-Nan Lu , Tomomichi Suzuki

Genome-wide association studies (GWAS) have identified hundreds of loci at very stringent levels of statistical significance across many different human traits. However, it is now clear that very large samples (n~10^4-10^5) are needed to…

Genomics · Quantitative Biology 2013-08-20 Inti Pedroso

Historically, the majority of statistical association methods have been designed assuming availability of SNP-level information. However, modern genetic and sequencing data present new challenges to access and sharing of genotype-phenotype…

Genomics · Quantitative Biology 2020-07-01 Olga A Vsevolozhskaya , Min Shi , Fengjiao Hu , Dmitri V Zaykin

The advent of artificial intelligence, especially the progress of deep neural networks, is expected to revolutionize genetic research and offer unprecedented potential to decode the complex relationships between genetic variants and disease…

Quantitative Methods · Quantitative Biology 2023-12-13 Tingting Hou , Chang Jiang , Qing Lu

To date, most genetic analyses of phenotypes have focused on analyzing single traits or, analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power, and hold…

Genomics · Quantitative Biology 2015-12-04 Futao Zhang , Dan Xie , Meimei Liang , Momiao Xiong

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

Machine Learning · Statistics 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

Coronary heart disease (CAD) is one of the crucial reasons for cardiovascular mortality in middle-aged people worldwide. The most typical tool is angiography for diagnosing CAD. The challenges of CAD diagnosis using angiography are costly…

Analysis of variance (ANOVA) is an extremely important method in exploratory and confirmatory data analysis. Unfortunately, in complex problems (e.g., split-plot designs), it is not always easy to set up an appropriate ANOVA. We propose a…

Statistics Theory · Mathematics 2007-06-13 Andrew Gelman

Genomic phenotypes, such as DNA methylation and chromatin accessibility, can be used to characterize the transcriptional and regulatory activity of DNA within a cell. Recent technological advances have made it possible to measure such…

Methodology · Statistics 2016-11-15 Jean Morrison , Noah Simon , Daniela Witten