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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…

基因组学 · 定量生物学 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,…

基因组学 · 定量生物学 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.…

基因组学 · 定量生物学 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…

定量方法 · 定量生物学 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…

信息检索 · 计算机科学 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…

分布式、并行与集群计算 · 计算机科学 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…

统计方法学 · 统计学 2014-10-08 Peter B. Chi , Sujay Chattopadhyay , Philippe Lemey , Evgeni V. Sokurenko , Vladimir N. Minin

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…

数据结构与算法 · 计算机科学 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…

统计方法学 · 统计学 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…

种群与进化 · 定量生物学 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…

机器学习 · 计算机科学 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…

种群与进化 · 定量生物学 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…

密码学与安全 · 计算机科学 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…

种群与进化 · 定量生物学 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…

种群与进化 · 定量生物学 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…

基因组学 · 定量生物学 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…

计算工程、金融与科学 · 计算机科学 2013-10-29 Shel Swenson , Yogesh Simmhan , Viktor Prasanna , Manish Parashar , Jason Riedy , David Bader , Richard Vuduc