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Understanding the genetic underpinnings of complex traits and diseases has been greatly advanced by genome-wide association studies (GWAS). However, a significant portion of trait heritability remains unexplained, known as ``missing…

Genomics · Quantitative Biology 2024-09-05 Samhita Pal , Xinge Jessie Jeng

Genetic association studies are becoming an important component of medical research. To cite one instance, pharmacogenomics which is gaining prominence as a useful tool for personalized medicine is heavily reliant on results from genetic…

Applications · Statistics 2018-03-13 Majnu John , Todd Lencz , Anil K Malhotra , Christoph U Correll , Jian-Ping Zhang

Predicting the response of cancer cells to drugs is an important problem in pharmacogenomics. Recent efforts in generation of large scale datasets profiling gene expression and drug sensitivity in cell lines have provided a unique…

Quantitative Methods · Quantitative Biology 2018-11-01 Cheng Qian , Nicholas D. Sidiropoulos , Magda Amiridi , Amin Emad

Motivated by the need to study the molecular mechanism underlying Type 1 Diabetes (T1D) with the gene expression data collected from both the patients and healthy controls at multiple time points, we propose an innovative method for jointly…

Methodology · Statistics 2018-12-10 Bochao Jia , Faming Liang , the TEDDY Study Group

We present a genetic algorithm (GA) for structural search that combines the speed of structure exploration by classical potentials with the accuracy of density functional theory (DFT) calculations in an adaptive and iterative way. This…

Materials Science · Physics 2015-11-06 S. Q. Wu , M. Ji , C. Z. Wang , M. C. Nguyen , X. Zhao , K. Umemoto , R. M. Wentzcovitch , K. M. Ho

Based on the normal distribution and its properties, i.e., average and variance, Fisher works have provided a conceptual framework to identify genotype-phenotype associations. While Fisher intuition has proved fruitful over the past…

Populations and Evolution · Quantitative Biology 2023-07-06 Cyril Rauch , Panagiota Kyratzi , Andras Paldi

Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…

Annotations of gene structures and regulatory elements can inform genome-wide association studies (GWAS). However, choosing the relevant annotations for interpreting an association study of a given trait remains challenging. We describe a…

Genomics · Quantitative Biology 2014-04-24 Joseph K. Pickrell

The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine…

Methodology · Statistics 2014-04-30 Ruth Heller , Daniel Yekutieli

Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and…

Applications · Statistics 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

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…

Methodology · Statistics 2017-10-27 Yi Yang , Mingwei Dai , Jian Huang , Xinyi Lin , Can Yang , Jin Liu , Min Chen

The idea of "stratified medicine" is an important driver of methodological research on the identification of predictive biomarkers. Most methods proposed so far for this purpose have been developed for the use on randomized data only.…

Methodology · Statistics 2022-12-19 Julia Krzykalla , Axel Benner , Annette Kopp-Schneider

Multivariate linear mixed models (mvLMMs) have been widely used in many areas of genetics, and have attracted considerable recent interest in genome-wide association studies (GWASs). However, fitting mvLMMs is computationally non-trivial,…

Quantitative Methods · Quantitative Biology 2013-09-13 Xiang Zhou , Matthew Stephens

It is increasingly common to collect data of multiple different types on the same set of samples. Our focus is on studying relationships between such multiview features and responses. A motivating application arises in the context of…

Machine Learning · Statistics 2026-01-26 Niccolo Anceschi , Federico Ferrari , David B. Dunson , Himel Mallick

Gene expression levels in a population vary extensively across tissues. Such heterogeneity is caused by genetic variability and environmental factors, and is expected to be linked to disease development. The abundance of experimental data…

Machine Learning · Statistics 2015-06-26 Zi Wang , Wei Yuan , Giovanni Montana

Genome-wide association studies (GWAS) have successfully identified a large number of genetic variants associated with traits and diseases. However, it still remains challenging to fully understand functional mechanisms underlying many…

Genomics · Quantitative Biology 2022-04-15 Qiaolan Deng , Jin Hyun Nam , Ayse Selen Yilmaz , Won Chang , Maciej Pietrzak , Lang Li , Hang J. Kim , Dongjun Chung

In genome-wide association (GWA) studies the goal is to detect associations between genetic markers and a given phenotype. The number of genetic markers can be large and effective methods for control of the overall error rate is a central…

Methodology · Statistics 2017-05-09 Kari Krizak Halle , Mette Langaas

In modern biomedical research, it is ubiquitous to have multiple data sets measured on the same set of samples from different views (i.e., multi-view data). For example, in genetic studies, multiple genomic data sets at different molecular…

Methodology · Statistics 2017-03-20 Gen Li , Sungkyu Jung

Taking advantages of high-throughput genotyping technology of single nucleotide polymorphism (SNP), large genome-wide association studies (GWASs) have been considered as the promise to unravel the complex relationships between genotypes and…

Genomics · Quantitative Biology 2018-11-20 Xuan Guo

Models for genome-wide prediction and association studies usually target a single phenotypic trait. However, in animal and plant genetics it is common to record information on multiple phenotypes for each individual that will be genotyped.…

Methodology · Statistics 2014-12-09 Marco Scutari , Phil Howell , David J. Balding , Ian Mackay
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