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Background: With the fast development of next generation sequencing technologies, increasing numbers of genomes are being de novo sequenced and assembled. However, most are in fragmental and incomplete draft status, and thus it is often…

Genomics · Quantitative Biology 2020-02-28 Binghang Liu , Yujian Shi , Jianying Yuan , Xuesong Hu , Hao Zhang , Nan Li , Zhenyu Li , Yanxiang Chen , Desheng Mu , Wei Fan

The wide array of currently available genomes display a wonderful diversity in size, composition and structure with many more to come thanks to several global biodiversity genomics initiatives starting in recent years. However, sequencing…

A major challenge in next-generation genome sequencing (NGS) is to assemble massive overlapping short reads that are randomly sampled from DNA fragments. To complete assembling, one needs to finish a fundamental task in many leading…

Genomics · Quantitative Biology 2015-05-26 Yang Li , XifengYan

A basic task in bioinformatics is the counting of $k$-mers in genome strings. The $k$-mer counting problem is to build a histogram of all substrings of length $k$ in a given genome sequence. We present the open source $k$-mer counting…

Data Structures and Algorithms · Computer Science 2016-07-25 Marius Erbert , Steffen Rechner , Matthias Müller-Hannemann

Motivation: Next-generation sequencing tools have enabled producing of huge amount of genomic information at low cost. Unfortunately, presence of sequencing errors in such data affects quality of downstream analyzes. Accuracy of them can be…

Genomics · Quantitative Biology 2017-03-03 Maciej Dlugosz , Sebastian Deorowicz

k-mers (nucleotide strings of length k) form the basis of several algorithms in computational genomics. In particular, k-mer abundance information in sequence data is useful in read error correction, parameter estimation for genome…

Data Structures and Algorithms · Computer Science 2016-09-20 Naveen Sivadasan , Rajgopal Srinivasan , Kshama Goyal

We introduce an improved version of RECKONER, an error corrector for Illumina whole genome sequencing data. By modifying its workflow we reduce the computation time even 10 times. We also propose a new method of determination of $k$-mer…

Genomics · Quantitative Biology 2017-03-03 Maciej Dlugosz , Sebastian Deorowicz , Marek Kokot

Many commonly studied species now have more than one chromosome-scale genome assembly, revealing a large amount of genetic diversity previously missed by approaches that map short reads to a single reference. However, many species still…

Populations and Evolution · Quantitative Biology 2024-09-19 Miles D. Roberts , Olivia Davis , Emily B. Josephs , Robert J. Williamson

K-mer counting is a requisite process for DNA assembly because it speeds up its overall process. The frequency of K-mers is used for estimating the parameters of DNA assembly, error correction, etc. The process also provides a list of…

Databases · Computer Science 2023-05-15 Sabuzima Nayak , Ripon Patgiri

Motivation: Illumina Sequencing data can provide high coverage of a genome by relatively short (100 bp150 bp) reads at a low cost. Our goal is to produce trimmed and error-corrected reads to improve genome assemblies. Our error correction…

Genomics · Quantitative Biology 2013-07-15 Guillaume Marçais , James A. Yorke , Aleksey Zimin

Distances between sequences based on their $k$-mer frequency counts can be used to reconstruct phylogenies without first computing a sequence alignment. Past work has shown that effective use of k-mer methods depends on 1) model-based…

Populations and Evolution · Quantitative Biology 2017-05-22 Chris Durden , Seth Sullivant

Sequencing technologies are prone to errors, making error correction (EC) necessary for downstream applications. EC tools need to be manually configured for optimal performance. We find that the optimal parameters (e.g., k-mer size) are…

Genomics · Quantitative Biology 2021-12-21 Atul Sharma , Pranjal Jain , Ashraf Mahgoub , Zihan Zhou , Kanak Mahadik , Somali Chaterji

The extraction of k-mers from sequencing reads is an important task in many bioinformatics applications, such as all DNA sequence analysis methods based on de Bruijn graphs. These methods tend to be more accurate when the used k-mers are…

Genomics · Quantitative Biology 2021-10-01 Miika Leinonen , Leena Salmela

The amount of non-unique sequence (non-singletons) in a genome directly affects the difficulty of read alignment to a reference assembly for high throughput-sequencing data. Although a greater length increases the chance for reads being…

Genomics · Quantitative Biology 2017-03-03 Wentian Li , Jan Freudenberg , Pedro Miramontes

Enormous volumes of short reads data from next-generation sequencing (NGS) technologies have posed new challenges to the area of genomic sequence comparison. The multiple sequence alignment approach is hardly applicable to NGS data due to…

Genomics · Quantitative Biology 2020-03-25 Ngoc Hieu Tran , Xin Chen

Motivation: Building the histogram of occurrences of every $k$-symbol long substring of nucleotide data is a standard step in many bioinformatics applications, known under the name of $k$-mer counting. Its applications include developing de…

Data Structures and Algorithms · Computer Science 2017-03-03 Sebastian Deorowicz , Marek Kokot , Szymon Grabowski , Agnieszka Debudaj-Grabysz

Frequencies of $k$-mers in sequences are sometimes used as a basis for inferring phylogenetic trees without first obtaining a multiple sequence alignment. We show that a standard approach of using the squared-Euclidean distance between…

Populations and Evolution · Quantitative Biology 2016-01-15 Elizabeth S. Allman , John A. Rhodes , Seth Sullivant

Background: Short sequence substrings of a fixed length k, called k-mers, are a ubiquitous computational primitive in bioinformatics, used across sequence indexing, read mapping, genome assembly, metagenomic classification, and comparative…

Genomics · Quantitative Biology 2026-05-15 Lucas Czech

Obtaining effective representations of DNA sequences is crucial for genome analysis. Metagenomic binning, for instance, relies on genome representations to cluster complex mixtures of DNA fragments from biological samples with the aim of…

Machine Learning · Computer Science 2024-11-05 Abdulkadir Celikkanat , Andres R. Masegosa , Thomas D. Nielsen

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
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