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Recent studies demonstrate that effective healthcare can benefit from using the human genomic information. For instance, analysis of tumor genomes has revealed 140 genes whose mutations contribute to cancer. As a result, many institutions…

密码学与安全 · 计算机科学 2017-03-09 Md Nazmus Sadat , Md Momin Al Aziz , Noman Mohammed , Feng Chen , Shuang Wang , Xiaoqian Jiang

Motivated by empirical arguments that are well-known from the genome-wide association studies (GWAS) literature, we study the statistical properties of linear mixed models (LMMs) applied to GWAS. First, we study the sensitivity of LMMs to…

定量方法 · 定量生物学 2021-11-09 Haohan Wang , Bryon Aragam , Eric Xing

Genetic Gaussian network of multiple phenotypes constructed through the genetic correlation matrix is informative for understanding their biological dependencies. However, its interpretation may be challenging because the estimated genetic…

统计方法学 · 统计学 2024-12-31 Yihe Yang , Noah Lorincz-Comi , Xiaofeng Zhu

One way of investigating how genes affect human traits would be with a genome-wide association study (GWAS). Genetic markers, known as single-nucleotide polymorphism (SNP), are used in GWAS. This raises privacy and security concerns as…

应用统计 · 统计学 2019-08-02 Jun Jie Sim , Fook Mun Chan , Shibin Chen , Benjamin Hong Meng Tan , Khin Mi Mi Aung

We study a class of weakly identifiable location-scale mixture models for which the maximum likelihood estimates based on $n$ i.i.d. samples are known to have lower accuracy than the classical $n^{- \frac{1}{2}}$ error. We investigate…

统计理论 · 数学 2021-11-17 Raaz Dwivedi , Nhat Ho , Koulik Khamaru , Martin J. Wainwright , Michael I. Jordan , Bin Yu

Kinship verification is a well-explored task: identifying whether or not two persons are kin. In contrast, kinship identification has been largely ignored so far. Kinship identification aims to further identify the particular type of…

计算机视觉与模式识别 · 计算机科学 2020-08-25 Wei Wang , Shaodi You , Sezer Karaoglu , Theo Gevers

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

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

Automatic kinship verification aims to determine whether some individuals belong to the same family. It is of great research significance to help missing persons reunite with their families. In this work, the challenging problem is…

计算机视觉与模式识别 · 计算机科学 2020-06-09 Jun Yu , Mengyan Li , Xinlong Hao , Guochen Xie

Linear mixed models (LMM) are widely adopted in genome-wide association studies (GWAS) to account for population stratification and cryptic relatedness. However, the parameter estimation of LMMs imposes substantial computational burdens due…

统计计算 · 统计学 2025-08-08 Zhibin Pu , Shufei Ge , Shijia Wang

In genome-wide association studies (GWAS), hundreds of thousands of genetic markers (SNPs) are tested for association with a trait or phenotype. Reported effects tend to be larger in magnitude than the true effects of these markers, the…

统计方法学 · 统计学 2010-10-25 Michael E. Goddard , Naomi R. Wray , Klara Verbyla , Peter M. Visscher

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

基因组学 · 定量生物学 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

In genome-wide association studies, hundreds of thousands of genetic features (genes, proteins, etc.) in a given case-control population are tested to verify existence of an association between each genetic marker and a specific disease. A…

应用统计 · 统计学 2021-02-01 Ali Karimnezhad

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 led to the discovery of numerous single nucleotide polymorphisms (SNPs) associated with various phenotypes and complex diseases. However, the identified genetic variants do not fully explain the…

统计方法学 · 统计学 2025-07-09 Dayeon Jung , Yewon Kim , Junyong Park

In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples.…

统计方法学 · 统计学 2013-05-21 Jin Liu , Can Yang , Xingjie Shi , Cong Li , Jian Huang , Hongyu Zhao , Shuangge Ma

Huge numbers of short reads are being generated for mapping back to the genome to discover the frequency of transcripts, miRNAs, DNAase hypersensitive sites, FAIRE regions, nucleosome occupancy, etc. Since these reads are typically short…

基因组学 · 定量生物学 2009-12-31 Peter J. Waddell , Timothy Herston

Facial Kinship Verification is the task of determining the degree of familial relationship between two facial images. It has recently gained a lot of interest in various applications spanning forensic science, social media, and demographic…

计算机视觉与模式识别 · 计算机科学 2023-02-21 Nazim Bendib

A large number of recent genome-wide association studies (GWASs) for complex phenotypes confirm the early conjecture for polygenicity, suggesting the presence of large number of variants with only tiny or moderate effects. However, due to…

基因组学 · 定量生物学 2018-05-01 Mingwei Dai , Xiang Wan , Hao Peng , Yao Wang , Yue Liu , Jin Liu , Zongben Xu , Can Yang

To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build…

机器学习 · 计算机科学 2025-07-01 Alan N. Amin , Andres Potapczynski , Andrew Gordon Wilson