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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…

Molecular Networks · Quantitative Biology 2024-11-01 Marc Subirana-Granés , Jill Hoffman , Haoyu Zhang , Christina Akirtava , Sutanu Nandi , Kevin Fotso , Milton Pividori

Genome-wide association studies (GWAS) have achieved great success in the genetic study of Alzheimer's disease (AD). Collaborative imaging genetics studies across different research institutions show the effectiveness of detecting genetic…

Machine Learning · Computer Science 2017-04-28 Qingyang Li , Dajiang Zhu , Jie Zhang , Derrek Paul Hibar , Neda Jahanshad , Yalin Wang , Jieping Ye , Paul M. Thompson , Jie Wang

A brain wide association study (BWAS) based on the logistic regression was first developed and applied to a large population of epilepsy patients (168) and healthy controls (136). It was found that the most significant links associated with…

Medical Physics · Physics 2012-09-26 Wei Cheng , Xuejuan Zhang , Ge Tian , Jianfeng Feng , Zhengge Wang , Zhiqiang Zhang , GuangMing Lu

In many scientific and engineering applications, one has to solve not one but a sequence of instances of the same problem. Often times, the problems in the sequence are linked in a way that allows intermediate results to be reused. A…

Mathematical Software · Computer Science 2013-05-01 Diego Fabregat-Traver , Paolo Bientinesi

Collection of genotype data in case-control genetic association studies may often be incomplete for reasons related to genes themselves. This non-ignorable missingness structure, if not appropriately accounted for, can result in…

Methodology · Statistics 2024-07-12 Le Wang , Zhengbang Li , Ben Fitzpatrick , Clarice Weinberg , Jinbo Chen

Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end…

Methodology · Statistics 2013-07-30 Heejung Shim , Matthew Stephens

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

Artificial neural networks are functions depending on a finite number of parameters typically encoded as weights and biases. The identification of the parameters of the network from finite samples of input-output pairs is often referred to…

Machine Learning · Computer Science 2022-11-10 Massimo Fornasier , Timo Klock , Marco Mondelli , Michael Rauchensteiner

Summary statistics of genome-wide association studies (GWAS) teach causal relationship between millions of genetic markers and tens and thousands of phenotypes. However, underlying biological mechanisms are yet to be elucidated. We can…

Machine Learning · Statistics 2019-01-25 Yongjin Park , Abhishek Sarkar , Khoi Nguyen , Manolis Kellis

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…

Alzheimer's disease is the most common cause of dementia. It is the fifth-leading cause of death among elderly people. With high genetic heritability (79%), finding disease causal genes is a crucial step in find treatment for AD. Following…

Applications · Statistics 2018-11-14 Sicheng Hao , Rui Wang , Yu Zhang , Hui Zhan

Recent publications have described and applied a novel metric that quantifies the genetic distance of an individual with respect to two population samples, and have suggested that the metric makes it possible to infer the presence of an…

Genomics · Quantitative Biology 2015-09-24 Rosemary Braun , William Rowe , Carl Schaefer , Jinghui Zhang , Kenneth Buetow

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…

Methodology · Statistics 2022-03-24 Bingxin Zhao , Xiaochen Yang , Hongtu Zhu

Obesity is widely recognized as a serious and pervasive health concern. We study obesity through body mass index (BMI), which is known to be highly heritable, and identify important genetic risk factors for BMI from hundreds of thousands of…

Applications · Statistics 2026-03-31 Jiantong Wang , Heng Lian , Yan Yu , Tianhai Zu , Heping Zhang

We consider the problem of neural association for a network of non-binary neurons. Here, the task is to first memorize a set of patterns using a network of neurons whose states assume values from a finite number of integer levels. Later,…

Neural and Evolutionary Computing · Computer Science 2013-02-18 Amir Hesam Salavati , K. Raj Kumar , Amin Shokrollahi

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…

Methodology · Statistics 2025-07-09 Dayeon Jung , Yewon Kim , Junyong Park

Time series subsequence anomaly detection is an important task in a large variety of real-world applications ranging from health monitoring to AIOps, and is challenging due to the following reasons: 1) how to effectively learn complex…

Machine Learning · Computer Science 2024-11-27 Weiqi Chen , Zhiqiang Zhou , Qingsong Wen , Liang Sun

Gene expression prediction plays a vital role in transcriptome-wide association studies (TWAS), which seek to establish associations between tissue gene expression and complex traits. Traditional models rely on genetic variants in close…

Molecular Networks · Quantitative Biology 2024-08-19 Gutama Ibrahim Mohammad , Tom Michoel

Bacteria pose unique challenges for genome-wide association studies (GWAS) because of strong structuring into distinct strains and substantial linkage disequilibrium across the genome. While methods developed for human studies can correct…

Thousands of risk variants underlying complex phenotypes (quantitative traits and diseases) have been identified in genome-wide association studies (GWAS). However, there are still two major challenges towards deepening our understanding of…

Methodology · Statistics 2017-10-20 Jingsi Ming , Mingwei Dai , Mingxuan Cai , Xiang Wan , Jin Liu , Can Yang
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