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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…

Machine Learning · Statistics 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

Polygenic risk scores (PRSs) can significantly enhance breast cancer risk prediction when combined with clinical risk factor data. While many studies have explored the value-add of PRSs, little is known about the potential impact of…

Genomics · Quantitative Biology 2024-07-31 Monica Isgut , Andrew Hornback , Yunan Luo , Asma Khimani , Neha Jain , May D. Wang

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…

Cryptography and Security · Computer Science 2017-03-09 Md Nazmus Sadat , Md Momin Al Aziz , Noman Mohammed , Feng Chen , Shuang Wang , Xiaoqian Jiang

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with complex traits, and some variants are shown to be associated with multiple complex traits. Genetic covariance between two traits is defined…

Methodology · Statistics 2023-10-06 Jianqiao Wang , Sai Li , Hongzhe Li

Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

Applications · Statistics 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

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

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…

Genomics · Quantitative Biology 2018-05-01 Mingwei Dai , Xiang Wan , Hao Peng , Yao Wang , Yue Liu , Jin Liu , Zongben Xu , Can Yang

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…

Genomics · Quantitative Biology 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

The electroencephalographic (EEG) signals provide highly informative data on brain activities and functions. However, their heterogeneity and high dimensionality may represent an obstacle for their interpretation. The introduction of a…

Neural and Evolutionary Computing · Computer Science 2023-10-26 Aurora Saibene , Francesca Gasparini

Risk for autism can be influenced by genetic mutations in hundreds of genes. Based on findings showing that genes with highly correlated gene expressions are functionally interrelated, "guilt by association" methods such as DAWN have been…

Methodology · Statistics 2020-03-10 Kevin Z. Lin , Han Liu , Kathryn Roeder

Heterogeneity is a hallmark of many complex diseases. There are multiple ways of defining heterogeneity, among which the heterogeneity in genetic regulations, for example GEs (gene expressions) by CNVs (copy number variations) and…

Methodology · Statistics 2022-12-01 Sanguo Zhang , Xiaonan Hu , Ziye Luo , Yu Jiang , Yifan Sun , Shuangge Ma

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

Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

Populations and Evolution · Quantitative Biology 2014-08-19 Jeremy J. Berg , Graham Coop

Graphical models are commonly used to discover associations within gene or protein networks for complex diseases such as cancer. Most existing methods estimate a single graph for a population, while in many cases, researchers are interested…

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…

Methodology · Statistics 2024-12-31 Yihe Yang , Noah Lorincz-Comi , Xiaofeng Zhu

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…

Genomics · Quantitative Biology 2022-09-21 Túlio Pascoal , Jérémie Decouchant , Antoine Boutet , Marcus Völp

We propose a new multi-network-based strategy to integrate different layers of genomic information and use them in a coordinate way to identify driving cancer genes. The multi-networks that we consider combine transcription factor…

Molecular Networks · Quantitative Biology 2015-12-10 Laura Cantini , Enzo Medico , Santo Fortunato , Michele Caselle

The family-wise error rate (FWER) has been widely used in genome-wide association studies. With the increasing availability of functional genomics data, it is possible to increase the detection power by leveraging these genomic functional…

Methodology · Statistics 2020-12-25 Huijuan Zhou , Xianyang Zhang , Jun Chen

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

Genomics · Quantitative Biology 2025-02-12 Burak Yelmen , Maris Alver , Merve Nur Güler , Estonian Biobank Research Team , Flora Jay , Lili Milani

The selection of features is an essential data preprocessing stage in data mining. The core principle of feature selection seems to be to pick a subset of possible features by excluding features with almost no predictive information as well…

Machine Learning · Computer Science 2020-08-11 Mehrdad Rostami , Kamal Berahmand , Saman Forouzandeh