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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

This paper describes the software implementation of genetic algorithm for identifying and selecting most relevant results received during sequentially executed subject search operations. Simulated evolutionary process generates sustainable…

Information Retrieval · Computer Science 2015-04-17 V. K. Ivanov , P. I. Meskin

Next Generation Sequencing can sample the whole genome (WGS) or the 1-2% of the genome that codes for proteins called the whole exome (WES). Machine learning approaches to variant calling achieve high accuracy in WGS data, but the reduced…

Genomics · Quantitative Biology 2019-11-19 Ren Yi , Pi-Chuan Chang , Gunjan Baid , Andrew Carroll

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

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

The R package (R Core Team (2016)) genMOSS is specifically designed for the Bayesian analysis of genome-wide association study data. The package implements the mode oriented stochastic search (MOSS) procedure as well as a simple moving…

Computation · Statistics 2016-11-24 Matthew Friedlander , Adrian Dobra , Helene Massam , Laurent Briollais

Contemporary bioinformatics has seen in profound new visibility into the composition, structure, and history of the natural world around us. Arguably, the central pillar of bioinformatics is phylogenetics -- the study of hereditary…

Populations and Evolution · Quantitative Biology 2024-09-24 Matthew Andres Moreno , Mark T. Holder , Jeet Sukumaran

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao

The vision of IASIS project is to turn the wave of big biomedical data heading our way into actionable knowledge for decision makers. This is achieved by integrating data from disparate sources, including genomics, electronic health records…

Over the last decade, a large variety of clustering algorithms have been developed to detect coregulatory relationships among genes from microarray gene expression data. Model based clustering approaches have emerged as statistically well…

Quantitative Methods · Quantitative Biology 2008-01-15 Anagha Joshi , Yves Van de Peer , Tom Michoel

With the recent advent of high-throughput genotyping techniques, genetic data for genome-wide association studies (GWAS) have become increasingly available, which entails the development of efficient and effective statistical approaches.…

Applications · Statistics 2015-02-04 Jiahan Li , Wei Zhong , Runze Li , Rongling Wu

High-throughput shotgun sequence data makes it possible in principle to accurately estimate population genetic parameters without confounding by SNP ascertainment bias. One such statistic of interest is the proportion of heterozygous sites…

Populations and Evolution · Quantitative Biology 2012-12-18 Katarzyna Bryc , Nick Patterson , David Reich

The alignment of biological sequences such as DNA, RNA, and proteins, is one of the basic tools that allow to detect evolutionary patterns, as well as functional/structural characterizations between homologous sequences in different…

Quantitative Methods · Quantitative Biology 2023-05-01 Louise Budzynski , Andrea Pagnani

Locating recombination hotspots in genomic data is an important but difficult task. Current methods frequently rely on estimating complicated models at high computational cost. In this paper we develop an extremely fast, scalable method for…

Applications · Statistics 2015-12-08 Jordan Rodu , Shane T. Jensen

The published method Generative Adversarial Networks for Recommender Systems (GANRS) allows generating data sets for collaborative filtering recommendation systems. The GANRS source code is available along with a representative set of…

Information Retrieval · Computer Science 2024-10-28 Jesús Bobadilla , Abraham Gutiérrez

Genome sequencing technology has improved significantly in few last years and resulted in abundance genetic data. Artificial intelligence has been employed to analyze genetic data in response to its sheer size and variability. Gene…

Genomics · Quantitative Biology 2023-03-17 Muhammad Anwari Leksono , Ayu Purwarianti

We present Propulate, an evolutionary optimization algorithm and software package for global optimization and in particular hyperparameter search. For efficient use of HPC resources, Propulate omits the synchronization after each generation…

Neural and Evolutionary Computing · Computer Science 2024-10-25 Oskar Taubert , Marie Weiel , Daniel Coquelin , Anis Farshian , Charlotte Debus , Alexander Schug , Achim Streit , Markus Götz

Routine single-sample haplotype-resolved assembly remains an unresolved problem. Here we describe a new algorithm that combines PacBio HiFi reads and Hi-C chromatin interaction data to produce a haplotype-resolved assembly without the…

Genomics · Quantitative Biology 2021-09-13 Haoyu Cheng , Erich D. Jarvis , Olivier Fedrigo , Klaus-Peter Koepfli , Lara Urban , Neil J. Gemmell , Heng Li

We introduce a simple algorithm for reconstructing phylogenies from multiple gene trees in the presence of incomplete lineage sorting, that is, when the topology of the gene trees may differ from that of the species tree. We show that our…

Populations and Evolution · Quantitative Biology 2011-09-30 Elchanan Mossel , Sebastien Roch

The advent of high-throughput sequencing technologies has revolutionized genome analysis by enabling the rapid and cost-effective sequencing of large genomes. Despite these advancements, the increasing complexity and volume of genomic data…

Genomics · Quantitative Biology 2025-03-06 Can Firtina
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