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Identifying species in biology among tens of thousands of visually similar taxa while discovering unknown species in open-world environments remains a fundamental challenge in biodiversity research. Current methods treat identification and…

Computer Vision and Pattern Recognition · Computer Science 2026-04-28 Jiawei Wang , Ming Lei , Yaning Yang , Xinyan Lin , Yuquan Le , Qiwei Ma , Zhiwei Xu , Zheqi Lv , Yuchen Ang , Zhe Quan , Tat-Seng Chua

Polyploidization is an important evolutionary process which affects organisms ranging from plants to fish and fungi. The signal left behind by it is in the form of a species' ploidy level (number of complete chromosome sets found in a cell)…

Populations and Evolution · Quantitative Biology 2022-11-10 Liam J. Maher , Taoyang Wu , Katharina T. Huber

Recent improvements in high-throughput genotyping and sequencing technologies have afforded the collection of massive, genome-wide datasets of DNA information from hundreds of thousands of individuals. These datasets, in turn, provide…

Populations and Evolution · Quantitative Biology 2014-12-19 Pier Francesco Palamara

Samples of multiple complete genome sequences contain vast amounts of information about the evolutionary history of populations, much of it in the associations among polymorphisms at different loci. Current methods that take advantage of…

Populations and Evolution · Quantitative Biology 2016-11-08 Daniel B. Weissman , Oskar Hallatschek

Here we present the first genome wide statistical test for recessive selection. This test uses explicitly non-equilibrium demographic differences between populations to infer the mode of selection. By analyzing the transient response to a…

Populations and Evolution · Quantitative Biology 2014-03-24 Daniel J. Balick , Ron Do , David Reich , Shamil R. Sunyaev

The language commonly used in human genetics can inadvertently pose problems for multiple reasons. Terms like "ancestry", "ethnicity", and other ways of grouping people can have complex, often poorly understood, or multiple meanings within…

Populations and Evolution · Quantitative Biology 2021-06-21 Ewan Birney , Michael Inouye , Jennifer Raff , Adam Rutherford , Aylwyn Scally

Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing a dichotomous…

Applications · Statistics 2011-11-24 Bin Zhu , Allison E. Ashley-Koch , David B. Dunson

One of the important questions in biological evolution is to know if certain changes along protein coding genes have contributed to the adaptation of species. This problem is known to be biologically complex and computationally very…

Distributed, Parallel, and Cluster Computing · Computer Science 2012-03-15 Sébastien Moretti , Riccardo Murri , Sergio Maffioletti , Arnold Kuzniar , Briséïs Castella , Nicolas Salamin , Marc Robinson-Rechavi , Heinz Stockinger

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…

Applications · Statistics 2011-04-07 Lambertus Klei , Brian P. Kent , Nadine Melhem , Bernie Devlin , Kathryn Roeder

Statistical analysis of DNA mixtures is known to pose computational challenges due to the enormous state space of possible DNA profiles. We propose a Bayesian network representation for genotypes, allowing computations to be performed…

Methodology · Statistics 2014-02-21 Therese Graversen , Steffen Lauritzen

The recent explosion of genomic data has underscored the need for interpretable and comprehensive analyses that can capture complex phylogenetic relationships within and across species. Recombination, reassortment and horizontal gene…

Quantitative Methods · Quantitative Biology 2016-09-28 Pablo G. Camara , Arnold J. Levine , Raul Rabadan

What is a population? This review considers how a population may be defined in terms of understanding the structure of the underlying genetics of the individuals involved. The main approach is to consider statistically identifiable groups…

Populations and Evolution · Quantitative Biology 2013-06-05 Daniel John Lawson

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

Applications · Statistics 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

Dendrograms are a way to represent evolutionary relationships between organisms. Nowadays, these are inferred based on the comparison of genes or protein sequences by taking into account their differences and similarities. The genetic…

Molecular Networks · Quantitative Biology 2019-09-09 Daniel Gamermann , Arnau Montagud , J. Alberto Conejero , Pedro Fernández de Córdoba , Javier F. Urchueguía

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

Extracting effective and discriminative features is very important for addressing the challenging person re-identification (re-ID) task. Prevailing deep convolutional neural networks (CNNs) usually use high-level features for identifying…

Computer Vision and Pattern Recognition · Computer Science 2021-06-08 Guoqing Zhang , Junchuan Yang , Yuhui Zheng , Yi Wu , Shengyong Chen

Local ancestry inference (LAI) identifies the ancestry of each segment of an individual's genome and is an important step in medical and population genetic studies of diverse cohorts. Several techniques have been used for LAI, including…

Genomics · Quantitative Biology 2020-11-05 Matthew Aguirre , Jan Sokol , Guhan Venkataraman , Alexander Ioannidis

The genetic diversity of a species is shaped by its recent evolutionary history and can be used to infer demographic events or selective sweeps. Most inference methods are based on the null hypothesis that natural selection is a weak or…

Populations and Evolution · Quantitative Biology 2013-03-05 Richard A. Neher , Oskar Hallatschek

Alternative splicing is crucial in gene regulation, with significant implications in clinical settings and biotechnology. This review article compiles bioinformatics RNA-seq tools for investigating differential splicing; offering a detailed…

Genomics · Quantitative Biology 2024-09-10 Ben J Draper , Mark J Dunning , David C James

This paper introduces Redescription Model Mining, a novel approach to identify interpretable patterns across two datasets that share only a subset of attributes and have no common instances. In particular, Redescription Model Mining aims to…

Databases · Computer Science 2021-07-12 Felix I. Stamm , Martin Becker , Markus Strohmaier , Florian Lemmerich