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As researchers collect increasingly large molecular data sets to reconstruct the Tree of Life, the heterogeneity of signals in the genomes of diverse organisms poses challenges for traditional phylogenetic analysis. A class of phylogenetic…

Populations and Evolution · Quantitative Biology 2015-09-11 Liang Liu , Zhenxiang Xi , Shaoyuan Wu , Charles Davis , Scott V. Edwards

Genomic phenotypes, such as DNA methylation and chromatin accessibility, can be used to characterize the transcriptional and regulatory activity of DNA within a cell. Recent technological advances have made it possible to measure such…

Methodology · Statistics 2016-11-15 Jean Morrison , Noah Simon , Daniela Witten

The rapid advances in the field of optimization methods in many pure and applied science pose the difficulty of keeping track of the developments as well as selecting an appropriate technique that best suits the problem in-hand. From a…

Neural and Evolutionary Computing · Computer Science 2011-12-30 Loris Serafino

With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex…

Methodology · Statistics 2025-08-18 Changshuai Wei , Ming Li , Zihuai He , Olga Vsevolozhskaya , Daniel J. Schaid , Qing Lu

Sex difference in allele frequency is an emerging topic that is critical to our understanding of ascertainment bias, as well as data quality particularly of the largely overlooked X chromosome. To detect sex difference in allele frequency…

Applications · Statistics 2022-12-26 Zhong Wang , Andrew D. Paterson , Lei Sun

In this article we propose a novel method to estimate the frequency distribution of linguistic variables while controlling for statistical non-independence due to shared ancestry. Unlike previous approaches, our technique uses all available…

Populations and Evolution · Quantitative Biology 2021-03-22 Gerhard Jäger , Johannes Wahle

Modern population genetics studies typically involve genome-wide genotyping of individuals from a diverse network of ancestries. An important, unsolved problem is how to formulate and estimate probabilistic models of observed genotypes that…

Populations and Evolution · Quantitative Biology 2017-01-10 Wei Hao , Minsun Song , John D. Storey

Machine Learning methods have of late made significant efforts to solving multidisciplinary problems in the field of cancer classification using microarray gene expression data. Feature subset selection methods can play an important role in…

Computational Engineering, Finance, and Science · Computer Science 2013-03-04 G. Prat , Ll. Belanche

We present a review of data types and statistical methods often encountered in astronomy. The aim is to provide an introduction to statistical applications in astronomy for statisticians and computer scientists. We highlight the complex,…

Physics Education · Physics 2017-10-23 James P. Long , Rafael S. de Souza

In recent years, advances in high throughput sequencing technology have led to a need for specialized methods for the analysis of digital gene expression data. While gene expression data measured on a microarray take on continuous values…

Applications · Statistics 2012-02-29 Daniela M. Witten

In differential expression (DE) analysis of RNA-seq count data, it is known that genes with a larger read number are more likely to be differentially expressed. This bias has a profound effect on the subsequent Gene Ontology (GO) analysis…

Genomics · Quantitative Biology 2015-08-18 Sora Yoon , Dougu Nam

Generative models are invaluable in many fields of science because of their ability to capture high-dimensional and complicated distributions, such as photo-realistic images, protein structures, and connectomes. How do we evaluate the…

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

Much of the natural variation for a complex trait can be explained by variation in DNA sequence levels. As part of sequence variation, gene-gene interaction has been ubiquitously observed in nature, where its role in shaping the development…

Applications · Statistics 2012-10-01 Shaoyu Li , Yuehua Cui

As sequencing technologies become more affordable and genomic databases expand continuously, the reuse of publicly available sequencing data emerges as a powerful strategy for studying microbial pathogens. Indeed, raw sequencing reads…

Quantitative Methods · Quantitative Biology 2025-05-16 Damien Richard , Nils Poulicard

We live in a period where bio-informatics is rapidly expanding, a significant quantity of genomic data has been produced as a result of the advancement of high-throughput genome sequencing technology, raising concerns about the costs…

Quantitative Methods · Quantitative Biology 2023-03-10 Mehedi Hasan Sarkar , Adnan Ferdous Ashrafi

The prediction of phenotypic traits using high-density genomic data has many applications such as the selection of plants and animals of commercial interest; and it is expected to play an increasing role in medical diagnostics. Statistical…

Methodology · Statistics 2016-09-29 Marco Scutari , Ian Mackay , David Balding

Integrating heterogeneous datasets across different measurement platforms is a fundamental challenge in many scientific applications. A common example arises in deconvolution problems, such as cell type deconvolution, where one aims to…

Methodology · Statistics 2025-09-30 Dongyue Xie , Lin Gui , Jingshu Wang

The modeling of time series is becoming increasingly critical in a wide variety of applications. Overall, data evolves by following different patterns, which are generally caused by different user behaviors. Given a time series, we define…

Machine Learning · Computer Science 2022-07-13 Wenjie Hu , Jianping Huang , Liang Wu , Yang Yang , Zongtao Liu , Zhanlin Sun , Bingshen Yao , Ke Chen

The rapid development of sequencing technologies represents new opportunities for population genetics research. It is expected that genomic data will increase our ability to reconstruct the history of populations. While this increase in…

Populations and Evolution · Quantitative Biology 2014-12-04 Olivier Mazet , Willy Rodríguez , Lounès Chikhi