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The goal of anomaly detection is to identify anomalous samples from normal ones. In this paper, a small number of anomalies are assumed to be available at the training stage, but they are assumed to be collected only from several anomaly…

Machine Learning · Computer Science 2022-05-03 Bowen Tian , Qinliang Su , Jian Yin

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human traits or diseases in the past decade. Nevertheless, much of the heritability of many traits is still unaccounted for. Commonly used…

Methodology · Statistics 2022-04-22 Qiaolan Deng , Chi Song , Shili Lin

Inferring the structure of gene regulatory networks (GRN) from gene expression data has many applications, from the elucidation of complex biological processes to the identification of potential drug targets. It is however a notoriously…

Machine Learning · Statistics 2012-05-08 Anne-Claire Haury , Fantine Mordelet , Paola Vera-Licona , Jean-Philippe Vert

Tens of thousands of simultaneous hypothesis tests are routinely performed in genomic studies to identify differentially expressed genes. However, due to unmeasured confounders, many standard statistical approaches may be substantially…

Methodology · Statistics 2025-03-18 Jin-Hong Du , Larry Wasserman , Kathryn Roeder

Association testing aims to discover the underlying relationship between genotypes (usually Single Nucleotide Polymorphisms, or SNPs) and phenotypes (attributes, or traits). The typically large data sets used in association testing often…

Applications · Statistics 2012-07-04 Zhen Li , Vikneswaran Gopal , Xiaobo Li , John M. Davis , George Casella

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

Missing data can lead to inefficiencies and biases in analyses, in particular when data are missing not at random (MNAR). It is thus vital to understand and correctly identify the missing data mechanism. Recovering missing values through a…

Methodology · Statistics 2022-12-08 Jack Noonan , Adetola Adedamola Adediran , Robin Mitra , Stefanie Biedermann

High-dimensional variable selection has emerged as one of the prevailing statistical challenges in the big data revolution. Many variable selection methods have been adapted for identifying single nucleotide polymorphisms (SNPs) linked to…

Methodology · Statistics 2024-08-21 Justin J. Van Ee , Diana Gamba , Jesse R. Lasky , Megan L. Vahsen , Mevin B. Hooten

Approaches for testing sets of variants, such as a set of rare or common variants within a gene or pathway, for association with complex traits are important. In particular, set tests allow for aggregation of weak signal within a set, can…

Genomics · Quantitative Biology 2013-05-28 Jennifer Listgarten , Christoph Lippert , Eun Yong Kang , Jing Xiang , Carl M. Kadie , David Heckerman

We propose a frame-based representation of k-mers for detecting sequencing errors and rare variants in next generation sequencing data obtained from populations of closely related genomes. Frames are sets of non-orthogonal basis functions,…

Genomics · Quantitative Biology 2016-04-19 Raunaq Malhotra , Manjari Mukhopadhyay , Mary Poss , Raj Acharya

Heritability is a central parameter in quantitative genetics, both from an evolutionary and a breeding perspective. For plant traits heritability is traditionally estimated by comparing within and between genotype variability. This approach…

We investigate the issue in determining the significance of candidate transient gravitational-wave events in a ground-based interferometer network. Given the presence of non-Gaussian noise artefacts in real data, the noise background must…

Instrumentation and Methods for Astrophysics · Physics 2017-10-18 Collin Capano , Thomas Dent , Chad Hanna , Martin Hendry , Yi-Ming Hu , Chris Messenger , John Veitch

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…

Methodology · Statistics 2023-02-07 Aastha Khatiwada , Ayse Selen Yilmaz , Bethany J. Wolf , Maciej Pietrzak , Dongjun Chung

Motivated by the gene co-expression pattern analysis, we propose a novel sample quantile-based contingency (squac) statistic to infer quantile associations conditioning on covariates. It features enhanced flexibility in handling variables…

Methodology · Statistics 2018-08-27 Jichun Xie , Ruosha Li

The theory of two-sided matching has been extensively developed and applied to many real-life application domains. As the theory has been applied to increasingly diverse types of environments, researchers and practitioners have encountered…

Computer Science and Game Theory · Computer Science 2024-09-25 Kei Kimura , Kwei-guu Liu , Zhaohong Sun , Kentaro Yahiro , Makoto Yokoo

We present a method to infer on joint regression coefficients obtained from marginal regressions using a reference panel. This type of scenario is common in genetic fine-mapping, where the estimated marginal associations are reported in…

Methodology · Statistics 2022-12-06 Tzviel Frostig , Ruth Heller

We construct genomic predictors for heritable and extremely complex human quantitative traits (height, heel bone density, and educational attainment) using modern methods in high dimensional statistics (i.e., machine learning). Replication…

Genomics · Quantitative Biology 2017-09-20 Louis Lello , Steven G. Avery , Laurent Tellier , Ana Vazquez , Gustavo de los Campos , Stephen D. H. Hsu

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

Because of the decreasing cost and high digital resolution, next-generation sequencing (NGS) is expected to replace the traditional hybridization-based microarray technology. For genetics study, the first-step analysis of NGS data is often…

Applications · Statistics 2014-01-13 Zhigen Zhao , Wei Wang , Zhi Wei

Precision medicine is a paradigm shift in healthcare relying heavily on genomics data. However, the complexity of biological interactions, the large number of genes as well as the lack of comparisons on the analysis of data, remain a…