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Motivation: Next generation methods of DNA sequencing produce relatively high rate of reading errors, which interfere with de novo genome assembly of newly sequenced organisms and particularly affect the quality of SNP detection important…

Genomics · Quantitative Biology 2019-07-31 Oleg Fokin , Anastasia Bakulina , Igor Seledtsov , Victor Solovyev

We propose a frame-based representation of k-mers for detecting sequencing errors and rare variants in next generation sequencing data obtained from populations of closely related genomes. Frames are sets of non-orthogonal basis functions,…

Genomics · Quantitative Biology 2016-04-19 Raunaq Malhotra , Manjari Mukhopadhyay , Mary Poss , Raj Acharya

A genome read data set can be quickly and efficiently remapped from one reference to another similar reference (e.g., between two reference versions or two similar species) using a variety of tools, e.g., the commonly-used CrossMap tool.…

Genomics · Quantitative Biology 2023-11-21 Jeremie S. Kim , Can Firtina , Meryem Banu Cavlak , Damla Senol Cali , Can Alkan , Onur Mutlu

Genome variants which re-occur independently across evolutionary lineages are key molecular signatures of adaptation. Inferring the dynamics of such genetic changes from pandemic-scale genomic datasets is now possible, which opens up…

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

Quantitative Methods · Quantitative Biology 2015-06-30 Min Xu

This article introduces an innovative Retrieval Augmented Generation approach to similarity search. The proposed method uses a generative model to capture nuanced semantic information and retrieve similarity scores based on advanced context…

Information Retrieval · Computer Science 2025-01-09 Jean Bertin

Genetic analysis methods are foundational to advancing personalized and preventative medicine, accelerating disease diagnostics, and monitoring the health of organisms and ecosystems. Current nucleic acid technologies such as polymerase…

Novel technologies in genomics allow creating data in exascale dimension with relatively minor effort of human and laboratory and thus monetary resources compared to capabilities only a decade ago. While the availability of this data…

Distributed, Parallel, and Cluster Computing · Computer Science 2015-11-10 Sandra Gesing , Thomas Richard Connor , Ian Taylor

When estimating a phylogeny from a multiple sequence alignment, researchers often assume the absence of recombination. However, if recombination is present, then tree estimation and all downstream analyses will be impacted, because…

Searching for similar genomic sequences is an essential and fundamental step in biomedical research and an overwhelming majority of genomic analyses. State-of-the-art computational methods performing such comparisons fail to cope with the…

Data Structures and Algorithms · Computer Science 2024-07-11 Mohammed Alser , Julien Eudine , Onur Mutlu

A holobiont is made up of a host organism together with its microbiota. In the context of animal breeding, the holobiont can be viewed as the single unit upon which selection operates. Therefore, integrating microbiota data into genomic…

Methodology · Statistics 2026-01-14 Solène Pety , Ingrid David , Andrea Rau , Mahendra Mariadassou

Phylogenetic tree inference using deep DNA sequencing is reshaping our understanding of rapidly evolving systems, such as the within-host battle between viruses and the immune system. Densely sampled phylogenetic trees can contain special…

Populations and Evolution · Quantitative Biology 2020-06-03 Cheng Zhang , Vu Dinh , Frederick A. Matsen

Biomarker discovery is vital in advancing personalized medicine, offering insights into disease diagnosis, prognosis, and therapeutic efficacy. Traditionally, the identification and validation of biomarkers heavily depend on extensive…

Machine Learning · Computer Science 2024-09-25 Wangyang Ying , Dongjie Wang , Xuanming Hu , Ji Qiu , Jin Park , Yanjie Fu

The reconstruction of phylogenetic networks is an important but challenging problem in phylogenetics and genome evolution, as the space of phylogenetic networks is vast and cannot be sampled well. One approach to the problem is to solve the…

Populations and Evolution · Quantitative Biology 2023-04-14 Louxin Zhang , Niloufar Abhari , Caroline Colijn , Yufeng Wu

We developed NameMyGene, a web tool and a stand alone program to easily generate putative family-based names for small RNA sequences so that laboratories can easily organize, analyze, and observe patterns from, the massive amount of data…

Cryptography and Security · Computer Science 2012-10-25 Guodong Liu , Zhihua Li , Yuefeng Lin , Bino John

Ancestral sequence reconstruction is a key task in computational biology. It consists in inferring a molecular sequence at an ancestral species of a known phylogeny, given descendant sequences at the tip of the tree. In addition to its many…

Populations and Evolution · Quantitative Biology 2022-07-27 Brandon Legried , Sebastien Roch

Computational complexity is a key limitation of genomic analyses. Thus, over the last 30 years, researchers have proposed numerous fast heuristic methods that provide computational relief. Comparing genomic sequences is one of the most…

Convergent evolution provides a useful framework for testing whether independent origins of similar traits share common genetic mechanisms. Evolutionary Sparse Learning with Paired Species Contrast (ESL-PSC) is an approach to identify genes…

Populations and Evolution · Quantitative Biology 2026-05-28 John B. Allard , Sudhir Kumar

Mapping gene expression as a quantitative trait using whole genome-sequencing and transcriptome analysis allows to discover the functional consequences of genetic variation. We developed a novel method and ultra-fast software Findr for…

Genomics · Quantitative Biology 2017-08-23 Lingfei Wang , Tom Michoel

DNA sequence analysis is fundamental to life science research. The rapid development of next generation sequencing (NGS) technologies, and the richness and diversity of applications it makes feasible, have created an enormous gulf between…

Computational Engineering, Finance, and Science · Computer Science 2013-10-29 Shel Swenson , Yogesh Simmhan , Viktor Prasanna , Manish Parashar , Jason Riedy , David Bader , Richard Vuduc
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