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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

Genome-wide association studies (GWAS) suggests that a complex disease is typically affected by many genetic variants with small or moderate effects. Identification of these risk variants remains to be a very challenging problem.…

统计方法学 · 统计学 2014-01-21 Dongjun Chung , Can Yang , Cong Li , Joel Gelernter , Hongyu Zhao

Decision trees are a popular family of models due to their attractive properties such as interpretability and ability to handle heterogeneous data. Concurrently, missing data is a prevalent occurrence that hinders performance of machine…

机器学习 · 计算机科学 2020-07-01 Pasha Khosravi , Antonio Vergari , YooJung Choi , Yitao Liang , Guy Van den Broeck

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…

The objective of a genome-wide association study (GWAS) is to associate subsequences of individuals' genomes to the observable characteristics called phenotypes (e.g., high blood pressure). Motivated by the GWAS problem, in this paper we…

信息论 · 计算机科学 2020-10-15 Behrooz Tahmasebi , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari

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

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

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

Testing the association between a phenotype and many genetic variants from case-control data is essential in genome-wide association study (GWAS). This is a challenging task as many such variants are correlated or non-informative.…

统计方法学 · 统计学 2016-01-25 Zhendong Huang , Davide Ferrari , Guoqi Qian

Motivated by the inquiries of weak signals in underpowered genome-wide association studies (GWASs), we consider the problem of retaining true signals that are not strong enough to be individually separable from a large amount of noise. We…

统计方法学 · 统计学 2024-02-05 X. Jessie Jeng , Yifei Hu , Quan Sun , Yun Li

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

Genome-Wide Association Studies (GWAS) face unique challenges in the era of big genomics data, particularly when dealing with ultra-high-dimensional datasets where the number of genetic features significantly exceeds the available samples.…

基因组学 · 定量生物学 2023-12-27 Kexuan Li

With the recent advent of high-throughput genotyping techniques, genetic data for genome-wide association studies (GWAS) have become increasingly available, which entails the development of efficient and effective statistical approaches.…

应用统计 · 统计学 2015-02-04 Jiahan Li , Wei Zhong , Runze Li , Rongling Wu

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

We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…

基因组学 · 定量生物学 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations…

基因组学 · 定量生物学 2023-04-07 Ali Amelia , Lourdes Pena-Castillo , Hamid Usefi

Genome-wide association studies (GWAS) are widely used to discover genetic variants associated with diseases. To control false positives, all findings from GWAS need to be verified with additional evidences, even for associations discovered…

基因组学 · 定量生物学 2026-03-12 Wei Jiang , Jing-Hao Xue , Weichuan Yu

This paper presents an impact assessment for the imputation of missing data. The data set used is HIV Seroprevalence data from an antenatal clinic study survey performed in 2001. Data imputation is performed through five methods: Random…

统计方法学 · 统计学 2020-11-25 Adam Pantanowitz , Tshilidzi Marwala

Background: Missing data is a common challenge in mass spectrometry-based metabolomics, which can lead to biased and incomplete analyses. The integration of whole-genome sequencing (WGS) data with metabolomics data has emerged as a…

Genome-wide Association Studies (GWASes) identify genomic variations that are statistically associated with a trait, such as a disease, in a group of individuals. Unfortunately, careless sharing of GWAS statistics might give rise to privacy…

基因组学 · 定量生物学 2022-09-21 Túlio Pascoal , Jérémie Decouchant , Antoine Boutet , Marcus Völp