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Alignment-based sequence similarity searches, while accurate for some type of sequences, can produce incorrect results when used on more divergent but functionally related sequences that have undergone the sequence rearrangements observed…

Genomics · Quantitative Biology 2015-01-21 Ivan Borozan , Stuart Watt , Vincent Ferretti

Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate…

Linking networks of molecular interactions to cellular functions and phenotypes is a key goal in systems biology. Here, we adapt concepts of spatial statistics to assess the functional content of molecular networks. Based on the…

Molecular Networks · Quantitative Biology 2015-06-22 Alex J. Cornish , Florian Markowetz

Integrating various data modalities brings valuable insights into underlying phenomena. Multimodal factor analysis (FA) uncovers shared axes of variation underlying different simple data modalities, where each sample is represented by a…

Machine Learning · Computer Science 2025-04-29 Małgorzata Łazęcka , Ewa Szczurek

While much effort has focused on detecting positive and negative directional selection in the human genome, relatively little work has been devoted to balancing selection. This lack of attention is likely due to the paucity of sophisticated…

Populations and Evolution · Quantitative Biology 2013-07-17 Michael DeGiorgio , Kirk E. Lohmueller , Rasmus Nielsen

Recently more and more evidence suggests that rare variants with much lower minor allele frequencies play significant roles in disease etiology. Advances in next-generation sequencing technologies will lead to many more rare variants…

Methodology · Statistics 2014-03-05 Ruixue Fan , Shaw-Hwa Lo

The abundance of functional observations in scientific endeavors has led to a significant development in tools for functional data analysis (FDA). This kind of data comes with several challenges: infinite-dimensionality of function spaces,…

Methodology · Statistics 2015-12-11 J. S. Marron , James O. Ramsay , Laura M. Sangalli , Anuj Srivastava

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

We present a new methodology for simultaneous variable selection and parameter estimation in function-on-scalar regression with an ultra-high dimensional predictor vector. We extend the LASSO to functional data in both the $\textit{dense}$…

Statistics Theory · Mathematics 2016-10-25 Rina Foygel Barber , Matthew Reimherr , Thomas Schill

Where causal SNPs (single nucleotide polymorphisms) tend to accumulate within biological pathways, the incorporation of prior pathways information into a statistical model is expected to increase the power to detect true associations in a…

Methodology · Statistics 2012-01-30 Matt Silver , Giovanni Montana

The genetic basis of multiple phenotypes such as gene expression, metabolite levels, or imaging features is often investigated by testing a large collection of hypotheses, probing the existence of association between each of the traits and…

Applications · Statistics 2015-04-06 Christine Peterson , Marina Bogomolov , Yoav Benjamini , Chiara Sabatti

The problems of large-scale multiple testing are often encountered in modern scientific researches. Conventional multiple testing procedures usually suffer considerable loss of testing efficiency due to the lack of consideration of…

Methodology · Statistics 2022-12-21 Pengfei Wang , Zhaofeng Tian

We combine two important ideas in the analysis of large-scale genomics experiments (e.g. experiments that aim to identify genes that are differentially expressed between two conditions). The first is use of Empirical Bayes (EB) methods to…

Methodology · Statistics 2026-02-02 David Gerard , Matthew Stephens

Modern genomics experiments measure functional behaviors for many thousands of DNA sequences. We suggest that, especially when these sequences are chosen at random, it is natural to compute correlation functions between sequences and…

Biological Physics · Physics 2020-12-14 Yaojun Zhang , Aakash Basu , Taekjip Ha , William Bialek

An important goal of medical imaging is to be able to precisely detect patterns of disease specific to individual scans; however, this is challenged in brain imaging by the degree of heterogeneity of shape and appearance. Traditional…

In microbiome analysis, researchers often seek to identify taxonomic features associated with an outcome of interest. However, microbiome features are intercorrelated and linked by phylogenetic relationships, making it challenging to assess…

Methodology · Statistics 2023-09-18 Yushu Shi , Liangliang Zhang , Kim-Anh Do , Robert R. Jenq , Christine B. Peterson

Pre-trained models have been successful in many protein engineering tasks. Most notably, sequence-based models have achieved state-of-the-art performance on protein fitness prediction while structure-based models have been used…

Machine Learning · Computer Science 2023-07-25 Antonia Boca , Simon Mathis

This paper presents and compares alternative transfer learning methods that can increase the power of conditional testing via knockoffs by leveraging prior information in external data sets collected from different populations or measuring…

Applications · Statistics 2021-08-20 Shuangning Li , Zhimei Ren , Chiara Sabatti , Matteo Sesia

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

Molecular Networks · Quantitative Biology 2024-11-01 Marc Subirana-Granés , Jill Hoffman , Haoyu Zhang , Christina Akirtava , Sutanu Nandi , Kevin Fotso , Milton Pividori

Although there are many methods for functional data analysis (FDA), little emphasis is put on characterizing variability among volatilities of individual functions. In particular, certain individuals exhibit erratic swings in their…

Applications · Statistics 2012-12-04 Bin Zhu , David B. Dunson