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Data analysis and machine learning have become an integrative part of the modern scientific methodology, providing automated techniques to predict further information based on observations. One of these classification and regression…

计算机视觉与模式识别 · 计算机科学 2019-01-07 Mario Amrehn , Firas Mualla , Elli Angelopoulou , Stefan Steidl , Andreas Maier

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

Genome-Wide Association Studies (GWAS) face unique challenges in the era of big genomics data, particularly when dealing with ultra-high-dimensional datasets where the number of genetic features significantly exceeds the available samples.…

基因组学 · 定量生物学 2023-12-27 Kexuan Li

The issue of robustness to family relationships in computing genotype ancestry scores such as eigenvector projections has received increased attention in genetic association, as the scores are widely used to control spurious association. We…

统计方法学 · 统计学 2016-06-28 Yi-Hui Zhou , J. S. Marron , Fred Wright

Genomic data arising from a genome-wide association study (GWAS) are often not only of large-scale, but also incomplete. A specific form of their incompleteness is missing values with non-ignorable missingness mechanism. The intrinsic…

统计方法学 · 统计学 2021-11-11 Siru Wang , Guoqi Qian

In many transcriptomic studies, the correlation of genes might fluctuate with quantitative factors such as genetic ancestry. We propose a method that models the covariance between two variables to vary against a continuous covariate. For…

统计方法学 · 统计学 2021-05-03 Tae Hyun Kim , Dan Nicolae

Polygenic risk score (PRS) analysis is a powerful method been used to estimate an individual's genetic risk towards targeted traits. PRS analysis could be used to obtain evidence of a genetic effect beyond Genome-Wide Association Studies…

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

Diagnostic datasets that can detect biased models are an important prerequisite for bias reduction within natural language processing. However, undesired patterns in the collected data can make such tests incorrect. For example, if the…

计算与语言 · 计算机科学 2020-12-16 Vid Kocijan , Oana-Maria Camburu , Thomas Lukasiewicz

We propose a simple method by which to choose sample weights for problems with highly imbalanced or skewed traits. Rather than naively discretizing regression labels to find binned weights, we take a more principled approach -- we derive…

机器学习 · 计算机科学 2021-04-01 Daniel J. Wu , Avoy Datta

Class imbalance is a common problem in supervised learning and impedes the predictive performance of classification models. Popular countermeasures include oversampling the minority class. Standard methods like SMOTE rely on finding nearest…

机器学习 · 计算机科学 2020-08-24 Justin Engelmann , Stefan Lessmann

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…

基因组学 · 定量生物学 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on…

应用统计 · 统计学 2011-04-07 Lambertus Klei , Brian P. Kent , Nadine Melhem , Bernie Devlin , Kathryn Roeder

This manuscript delves into the intersection of genomics and phenotypic prediction, focusing on the statistical innovation required to navigate the complexities introduced by noisy covariates and confounders. The primary emphasis is on the…

统计方法学 · 统计学 2024-11-15 Upama Paul Chowdhury , Ronit Bhattacharjee , Susmita Das , Abhik Ghosh

The past decade has seen a rapid growth in omics technologies. Genome-wide association studies (GWAS) have uncovered susceptibility variants for a variety of complex traits. However, the functional significance of most discovered variants…

基因组学 · 定量生物学 2017-02-22 Hon-Cheong So

This study proposes a data condensation method for multivariate kernel density estimation by genetic algorithm. First, our proposed algorithm generates multiple subsamples of a given size with replacement from the original sample. The…

统计方法学 · 统计学 2022-03-04 Kiheiji Nishida

Large-scale genome-wide association studies (GWAS) have offered an exciting opportunity to discover putative causal genes or risk factors associated with diseases by using SNPs as instrumental variables (IVs). However, conventional…

统计方法学 · 统计学 2023-10-27 Ben Dai , Chunlin Li , Haoran Xue , Wei Pan , Xiaotong Shen

Collecting genomics data across multiple heterogeneous populations (e.g., across different cancer types) has the potential to improve our understanding of disease. Despite sequencing advances, though, resources often remain a constraint…

统计方法学 · 统计学 2024-03-05 Yunyi Shen , Lorenzo Masoero , Joshua G. Schraiber , Tamara Broderick

In genome-wide association studies (GWASs), there is an increasing need for detecting the associations between a genetic variant and multiple traits. In studies of complex diseases, it is common to measure several potentially correlated…

统计方法学 · 统计学 2021-02-04 Qiaolan Deng , Chi Song

In this paper we propose a method and discuss its computational implementation as an integrated tool for the analysis of viral genetic diversity on data generated by high-throughput sequencing. Most methods for viral diversity estimation…