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A computationally simple genome-wide association study (GWAS) algorithm for estimating the main and epistatic effects of markers or single nucleotide polymorphisms (SNPs) is proposed. It is based on the intuitive assumption that changes of…

定量方法 · 定量生物学 2017-08-08 Lev V. Utkin , Irina L. Utkina

For the vast majority of genome wide association studies (GWAS) published so far, statistical analysis was performed by testing markers individually. In this article we present some elementary statistical considerations which clearly show…

应用统计 · 统计学 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

One of the notable fields in studying the genetics of cancer is disease gene identification which affects disease treatment and drug discovery. Many researches have been done in this field. Genome-wide association studies (GWAS) are one of…

计算工程、金融与科学 · 计算机科学 2016-04-27 Zahra Razaghi-Moghadama , Razieh Abdollahia , Sama Goliaeib , Morteza Ebrahimia

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…

Genome-wide association studies (GWA studies or GWAS) investigate the relationships between genetic variants such as single-nucleotide polymorphisms (SNPs) and individual traits. Recently, incorporating biological priors together with…

机器学习 · 统计学 2017-09-13 Tao Yang , Paul Thompson , Sihai Zhao , Jieping Ye

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

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…

统计方法学 · 统计学 2018-11-28 Luke J. O'Connor , Alkes L. Price

Introduction The focus of analyzing data from microarray experiments and extracting biological insight from such data has experienced a shift from identification of individual genes in association with a phenotype to that of biological…

基因组学 · 定量生物学 2015-08-10 Lei Zhang , Linlin Wang , Pu Tian , Suyan Tian

2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…

机器学习 · 计算机科学 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers

Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

定量方法 · 定量生物学 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

Ancestry-specific proteome-wide association studies (PWAS) based on genetically predicted protein expression can reveal complex disease etiology specific to certain ancestral groups. These studies require ancestry-specific models for…

应用统计 · 统计学 2024-04-26 Aaron J. Molstad , Yanwei Cai , Alexander P. Reiner , Charles Kooperberg , Wei Sun , Li Hsu

In the past decade, Genome-Wide Association Studies (GWAS) have delivered an increasingly broad view of the genetic basis of human phenotypic variation. One of the major developments from GWAS is polygenic scores, a genetic predictor of an…

基因组学 · 定量生物学 2019-09-04 Graham Coop

The aim of this paper is to propose a novel estimation method of using genetic-predicted observations to estimate trans-ancestry genetic correlations, which describes how genetic architecture of complex traits varies among populations, in…

统计方法学 · 统计学 2022-03-24 Bingxin Zhao , Xiaochen Yang , Hongtu Zhu

Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate…

While the individuals chosen for a genome-wide association study (GWAS) may not be closely related to each other, there can be distant (cryptic) relationships that confound the evidence of disease association. These cryptic relationships…

定量方法 · 定量生物学 2016-02-26 Bonnie Kirkpatrick , Alexandre Bouchard-Côté

Multi-trait genome-wide association studies (GWAS) use multi-variate statistical methods to identify associations between genetic variants and multiple correlated traits simultaneously, and have higher statistical power than independent…

基因组学 · 定量生物学 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel

Motivation: Genome-Wide Association Studies (GWAS) seek to identify causal genomic variants associated with rare human diseases. The classical statistical approach for detecting these variants is based on univariate hypothesis testing, with…

统计方法学 · 统计学 2018-10-22 Florent Guinot , Marie Szafranski , Christophe Ambroise , Franck Samson

The prevailing method of analyzing GWAS data is still to test each marker individually, although from a statistical point of view it is quite obvious that in case of complex traits such single marker tests are not ideal. Recently several…

应用统计 · 统计学 2015-06-19 Erich Dolejsi , Bernhard Bodenstorfer , Florian Frommlet

We extend the standard rough set-based approach to deal with huge amounts of numeric attributes versus small amount of available objects. Here, a novel approach of clustering along with dimensionality reduction; Hybrid Fuzzy C Means-Quick…

计算工程、金融与科学 · 计算机科学 2013-06-11 E. N. Sathishkumar , K. Thangavel , T. Chandrasekhar

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

基因组学 · 定量生物学 2024-11-19 Yuzhou Jiang , Erman Ayday