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An important task of human genetics studies is to accurately predict disease risks in individuals based on genetic markers, which allows for identifying individuals at high disease risks, and facilitating their disease treatment and…

基因组学 · 定量生物学 2013-08-20 Cong Li , Can Yang , Joel Gelernter , Hongyu Zhao

Genome-wide association studies (GWAS) have successfully identified over two hundred thousand genotype-trait associations. Yet some challenges remain. First, complex traits are often associated with many single nucleotide polymorphisms…

统计方法学 · 统计学 2023-02-07 Aastha Khatiwada , Ayse Selen Yilmaz , Bethany J. Wolf , Maciej Pietrzak , Dongjun Chung

In modern scientific studies, it is often imperative to determine whether a set of phenotypes is affected by a single factor. If such an influence is identified, it becomes essential to discern whether this effect is contingent upon…

统计方法学 · 统计学 2024-03-22 Srijan Chattopadhyay , Swapnaneel Bhattacharyya , Sevantee Basu

Methods to effectively detect multi-locus genetic association are becoming increasingly relevant in the genetic dissection of complex trait in humans. Current approaches typically consider a limited number of hypotheses, most of which are…

基因组学 · 定量生物学 2007-05-23 Zhong Li , Aris Floratos , David Wang , Andrea Califano

To date, genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants among a variety of traits/diseases, shedding a light on the genetic architecture of complex diseases. Polygenicity of complex…

统计方法学 · 统计学 2017-10-27 Yi Yang , Mingwei Dai , Jian Huang , Xinyi Lin , Can Yang , Jin Liu , Min Chen

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

统计方法学 · 统计学 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

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,…

计算工程、金融与科学 · 计算机科学 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases. However, other genomic data involved in the mechanism from SNPs to disease,…

应用统计 · 统计学 2014-04-28 Yen-Tsung Huang , Tyler J. VanderWeele , Xihong Lin

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

统计方法学 · 统计学 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

The genetic basis of multiple phenotypes such as gene expression, metabolite levels, or imaging features is often investigated by testing a large collection of hypotheses, probing the existence of association between each of the traits and…

应用统计 · 统计学 2015-04-06 Christine Peterson , Marina Bogomolov , Yoav Benjamini , Chiara Sabatti

Studying phenotype-gene association can uncover mechanism of diseases and develop efficient treatments. In complex disease where multiple phenotypes are available and correlated, analyzing and interpreting associated genes for each…

统计方法学 · 统计学 2021-12-14 Yujia Li , Yusi Fang , Peng Liu , George C. Tseng

The majority of common diseases are influenced by multiple genetic and environmental factors such as Cancer. Even though uncovering the main causes of disease is deemed difficult due to the complexity of gene-gene and gene-environment…

其他计算机科学 · 计算机科学 2017-05-10 Layan Nahlawi

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…

机器学习 · 统计学 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

Accurate power and sample size estimation are crucial to the design and analysis of genetic association studies. When analyzing a binary trait via logistic regression, important covariates such as age and sex are typically included in the…

统计方法学 · 统计学 2022-10-05 Ziang Zhang , Lei Sun

Methods have been developed for Mendelian randomization that can obtain consistent causal estimates while relaxing the instrumental variable assumptions. These include multivariable Mendelian randomization, in which a genetic variant may be…

统计方法学 · 统计学 2017-08-02 Jessica M. B. Rees , Angela Wood , Stephen Burgess

Mendelian randomization is a powerful tool for inferring the presence, or otherwise, of causal effects from observational data. However, the nature of genetic variants is such that pleiotropy remains a barrier to valid causal effect…

统计方法学 · 统计学 2021-08-04 Andrew J. Grant , Stephen Burgess

Exploring the genetic basis of heritable traits remains one of the central challenges in biomedical research. In simple cases, single polymorphic loci explain a significant fraction of the phenotype variability. However, many traits of…

种群与进化 · 定量生物学 2015-03-20 Barbara Rakitsch , Christoph Lippert , Oliver Stegle , Karsten Borgwardt

Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…

基因组学 · 定量生物学 2015-09-01 Aziz M. Mezlini , Fabio Fuligni , Adam Shlien , Anna Goldenberg

The widely used genetic pleiotropic analysis of multiple phenotypes are often designed for examining the relationship between common variants and a few phenotypes. They are not suited for both high dimensional phenotypes and high…

机器学习 · 统计学 2015-12-04 Panpan Wang , Mohammad Rahman , Li Jin , Momiao Xiong

Overweight and obesity remain a major global public health concern and identifying the individualized patterns that increase the risk of future weight gains has a crucial role in preventing obesity and numerous sub-sequent diseases…

机器学习 · 计算机科学 2021-11-09 Mina Samizadeh , Jessica C Jones-Smith , Bethany Sheridan , Rahmatollah Beheshti
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