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Genomic regions (or loci) displaying outstanding correlation with some environmental variables are likely to be under selection and this is the rationale of recent methods of identifying selected loci and retrieving functional information…

Populations and Evolution · Quantitative Biology 2013-08-13 Gilles Guillot

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

A daunting challenge faced by modern biological sciences is finding an efficient and computationally feasible approach to deal with the curse of high dimensionality. The problem becomes even more severe when the research focus is on…

Methodology · Statistics 2013-04-16 Hung Hung , Yu-Tin Lin , Pengwen Chen , Chen-Chien Wang , Su-Yun Huang , Jung-Ying Tzeng

Phenotypic variation is a hallmark of cellular physiology. Metabolic heterogeneity, in particular, underpins single-cell phenomena such as microbial drug tolerance and growth variability. Much research has focussed on transcriptomic and…

Molecular Networks · Quantitative Biology 2019-01-31 Mona K. Tonn , Philipp Thomas , Mauricio Barahona , Diego A Oyarzún

It is becoming increasingly clear that complex interactions among genes and environmental factors play crucial roles in triggering complex diseases. Thus, understanding such interactions is vital, which is possible only through statistical…

Applications · Statistics 2020-05-04 Durba Bhattacharya , Sourabh Bhattacharya

Motivation: Public and private repositories of experimental data are growing to sizes that require dedicated methods for finding relevant data. To improve on the state of the art of keyword searches from annotations, methods for…

Machine Learning · Statistics 2016-01-08 Paul Blomstedt , Ritabrata Dutta , Sohan Seth , Alvis Brazma , Samuel Kaski

In immunological studies, the characterization of small, functionally distinct cell subsets from blood and tissue is crucial to decipher system level biological changes. An increasing number of studies rely on assays that provide…

This paper develops a method based on model-X knockoffs to find conditional associations that are consistent across diverse environments, controlling the false discovery rate. The motivation for this problem is that large data sets may…

Methodology · Statistics 2021-06-09 Shuangning Li , Matteo Sesia , Yaniv Romano , Emmanuel Candès , Chiara Sabatti

Personalized cancer treatments based on the molecular profile of a patient's tumor are an emerging and exciting class of treatments in oncology. As genomic tumor profiling is becoming more common, targeted treatments to specific molecular…

A large amount of research has been devoted to the detection and investigation of epistatic interactions in genome-wide association studies (GWASs). Most of the literature focuses on low-order interactions between single-nucleotide…

Applications · Statistics 2017-02-17 Virginie Stanislas , Cyril Dalmasso , Christophe Ambroise

In recent years, several machine learning approaches have been proposed to predict gene expression and epigenetic signals from the DNA sequence alone. These models are often used to deduce, and, to some extent, assess putative new…

Genomics · Quantitative Biology 2023-04-26 Laurent Bréhélin

Affymetrix Genechip microarrays are used widely to determine the simultaneous expression of genes in a given biological paradigm. Probes on the Genechip array are atomic entities which by definition are randomly distributed across the array…

Genomics · Quantitative Biology 2009-11-13 Radhakrishnan Nagarajan , Meenakshi Upreti

Understanding the relationships between different properties of data, such as whether a connectome or genome has information about disease status, is becoming increasingly important in modern biological datasets. While existing approaches…

Machine Learning · Statistics 2024-06-27 Joshua T. Vogelstein , Eric Bridgeford , Qing Wang , Carey E. Priebe , Mauro Maggioni , Cencheng Shen

Gene expression estimation from pathology images has the potential to reduce the RNA sequencing cost. Point-wise loss functions have been widely used to minimize the discrepancy between predicted and absolute gene expression values.…

Computer Vision and Pattern Recognition · Computer Science 2025-12-09 Kazuya Nishimura , Haruka Hirose , Ryoma Bise , Kaito Shiku , Yasuhiro Kojima

Advances in data collecting technologies in genomics have significantly increased the need for tools designed to study the genetic basis of many diseases. Effective statistical methods should excel in both prediction accuracy and biomarker…

Methodology · Statistics 2025-11-13 Anthony-Alexander Christidis , Stefan Van Aelst , Ruben Zamar

Motivated by genome-wide association studies, we consider a standard linear model with one additional random effect in situations where many predictors have been collected on the same subjects and each predictor is analyzed separately.…

Applications · Statistics 2013-04-24 Matti Pirinen , Peter Donnelly , Chris C. A. Spencer

We introduce a model of DNA sequence evolution which can account for biases in mutation rates that depend on the identity of the neighboring bases. An analytic solution for this class of non-equilibrium models is developed by adopting…

Biological Physics · Physics 2007-05-23 Peter F. Arndt , Christopher B. Burge , Terence Hwa

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare

We introduce a multiple testing procedure (TreeBH) which addresses the challenge of controlling error rates at multiple levels of resolution. Conceptually, we frame this problem as the selection of hypotheses which are organized…

Methodology · Statistics 2018-10-25 Marina Bogomolov , Christine B. Peterson , Yoav Benjamini , Chiara Sabatti

Causal discovery in multi-omic datasets is crucial for understanding the bigger picture of gene regulatory mechanisms, but remains challenging due to high dimensionality, differentiation of direct from indirect relationships, and hidden…

Genomics · Quantitative Biology 2025-05-23 Stephen Asiedu , David Watson