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MOTIVATION: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and wall thickness, but…

Background and purpose: Heart disease has been one of the most important causes of death in the last 10 years, so the use of classification methods to diagnose and predict heart disease is very important. If this disease is predicted before…

Machine Learning · Computer Science 2021-03-16 Jafar Abdollahi , Babak Nouri-Moghaddam

We present an alternative method for genome-wide association studies (GWAS) that is more powerful than the regular GWAS method for locus detection. The regular GWAS method suffers from a substantial multiple-testing burden because of the…

Applications · Statistics 2018-12-19 William Denault , Håkon K. Gjessing , Julius Juodakis , Bo Jacobsson , Astanand Jugessur

Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

The standard methods for detecting differential gene expression are mostly designed for analyzing a single gene expression experiment. When data from multiple related gene expression studies are available, separately analyzing each study is…

Methodology · Statistics 2013-11-07 Yingying Wei , Hongkai Ji

Studies show that Studies that cardiovascular diseases (CVDs) are malignant for human health. Thus, it is important to have an efficient way of CVD prognosis. In response to this, the healthcare industry has adopted machine learning-based…

Machine Learning · Computer Science 2022-08-02 Mohammed Nowshad Ruhani Chowdhury , Wandong Zhang , Thangarajah Akilan

Rooted in genetics, human complex diseases are largely influenced by environmental factors. Existing literature has shown the power of integrative gene-environment interaction analysis by considering the joint effect of environmental…

Methodology · Statistics 2022-08-26 Jingyi Zhang , Xu Liu , Honglang Wang , Yuehua Cui

Analysis of variance (ANOVA) reveals some disadvantages, such as non-robustness against heteroscedastic or non-normal errors and using difference to overall mean as effect sizes only. As an alternative the multiple contrast test comparing…

Methodology · Statistics 2023-03-27 Ludwig A. Hothorn

Genome-wide association studies have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However,…

Quantitative Methods · Quantitative Biology 2015-09-24 Rosemary Braun , Kenneth Buetow

Missingness and measurement frequency are two sides of the same coin. How frequent should we measure clinical variables and conduct laboratory tests? It depends on many factors such as the stability of patient conditions, diagnostic…

Machine Learning · Computer Science 2024-02-16 Jiacheng Liu , Jaideep Srivastava

Genetic association studies are becoming an important component of medical research. To cite one instance, pharmacogenomics which is gaining prominence as a useful tool for personalized medicine is heavily reliant on results from genetic…

Applications · Statistics 2018-03-13 Majnu John , Todd Lencz , Anil K Malhotra , Christoph U Correll , Jian-Ping Zhang

Disease-gene association through Genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms (SNPs) that correlate with specific diseases needs statistical analysis of associations.…

Quantitative Methods · Quantitative Biology 2020-12-21 Sezin Kircali Ata , Min Wu , Yuan Fang , Le Ou-Yang , Chee Keong Kwoh , Xiao-Li Li

Navigating the complex landscape of single-cell transcriptomic data presents significant challenges. Central to this challenge is the identification of a meaningful representation of high-dimensional gene expression patterns that sheds…

Quantitative Methods · Quantitative Biology 2023-12-13 Mu Qiao

In genetic association studies, detecting disease-genotype associations is a primary goal. For most diseases, the underlying genetic model is unknown, and we study seven robust test statistics for monotone association. For a given test…

Methodology · Statistics 2020-04-13 Mette Langaas , Øyvind Bakke

In cancer research, profiling studies have been extensively conducted, searching for genes/SNPs associated with prognosis. Cancer is a heterogeneous disease. Examining similarity and difference in the genetic basis of multiple subtypes of…

Methodology · Statistics 2013-04-18 Jin Liu , Jian Huang , Yawei Zhang , Qing Lan , Nathaniel Rothman , Tongzhang Zheng , Shuangge Ma

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association…

We consider applying Bayesian Variable Selection Regression, or BVSR, to genome-wide association studies and similar large-scale regression problems. Currently, typical genome-wide association studies measure hundreds of thousands, or…

Applications · Statistics 2011-10-28 Yongtao Guan , Matthew Stephens

Accurate identification of haplotypes in sequenced human genomes can provide invaluable information about population demography and fine-scale correlations along the genome, thus empowering both population genomic and medical association…

Genomics · Quantitative Biology 2012-11-12 Fouad Zakharia , Carlos Bustamante

Recent advances in genomic sequencing technology have resulted in an abundance of genome sequence data. Despite the progress in interpreting those data, there remains a broad scope for their translation into clinical and societal benefits.…

Genomics · Quantitative Biology 2021-12-13 Abhinav Jain , Greg Slabaugh , Deepti Gurdasani

Genome-Wide Association Studies are typically conducted using linear models to find genetic variants associated with common diseases. In these studies, association testing is done on a variant-by-variant basis, possibly missing out on…