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In the last decade a number of algorithms and associated software have been developed to align next generation sequencing (NGS) reads with relevant reference genomes. The accuracy of these programs may vary significantly, especially when…

DNA read mapping is a ubiquitous task in bioinformatics, and many tools have been developed to solve the read mapping problem. However, there are two trends that are changing the landscape of readmapping: First, new sequencing technologies…

Genomics · Quantitative Biology 2017-02-09 Jens Quedenfeld , Sven Rahmann

There are currently plenty of programs available for mapping short sequences (reads) to a genome. Most of them, however, including such popular and actively developed programs as Bowtie, BWA, TopHat and many others, are based on…

Genomics · Quantitative Biology 2019-08-06 Igor Seledtsov , Jaroslav Efremov , Vladimir Molodtsov , Victor Solovyev

Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call…

The advent of high-throughput sequencing technologies constituted a major advance in genomic studies, offering new prospects in a wide range of applications. We propose a rigorous and flexible algorithmic solution to mapping SOLiD…

Quantitative Methods · Quantitative Biology 2011-01-18 Laurent Noé , Marta L. Gîrdea , Gregory Kucherov

Genome analysis fundamentally starts with a process known as read mapping, where sequenced fragments of an organism's genome are compared against a reference genome. Read mapping is currently a major bottleneck in the entire genome analysis…

Hardware Architecture · Computer Science 2020-10-29 Mohammed Alser , Zülal Bingöl , Damla Senol Cali , Jeremie Kim , Saugata Ghose , Can Alkan , Onur Mutlu

Genome sequencing has become a central focus in computational biology. A genome study typically begins with sequencing, which produces millions to billions of short DNA fragments known as reads. Read mapping aligns these reads to a…

Next-generation sequencing technologies generate millions of short sequence reads, which are usually aligned to a reference genome. In many applications, the key information required for downstream analysis is the number of reads mapping to…

Genomics · Quantitative Biology 2016-07-26 Yang Liao , Gordon K Smyth , Wei Shi

Recent emergence of next-generation DNA sequencing technology has enabled acquisition of genetic information at unprecedented scales. In order to determine the genetic blueprint of an organism, sequencing platforms typically employ…

Genomics · Quantitative Biology 2015-06-19 Xiaohu Shen , Manohar Shamaiah , Haris Vikalo

Adequate read filtering is critical when processing high-throughput data in marker-gene-based studies. Sequencing errors can cause the mis-clustering of otherwise similar reads, artificially increasing the number of retrieved Operational…

Quantitative Methods · Quantitative Biology 2015-06-02 Fernando Puente-Sánchez , Jacobo Aguirre , Víctor Parro

High read depth can be used to assemble short sequence repeats. The existing genome assemblers fail in repetitive regions of longer than average read. I propose a new algorithm for a DNA assembly which uses the relative frequency of reads…

Genomics · Quantitative Biology 2015-01-08 Robert M. Nowak

This work aims at improving the quality of structural variant prediction from the mapped reads of a sequenced genome. We suggest a new model based on cluster editing in weighted graphs and introduce a new heuristic algorithm that allows to…

Data Structures and Algorithms · Computer Science 2013-10-15 Thomas Bellitto , Tobias Marschall , Alexander Schönhuth , Gunnar W. Klau

Since the arrival of next-generation sequencing technologies the amount of genetic sequencing data has increased dramatically. This has has fueled an increase in human genetics research. At the same time, with the recent advent of…

Genomics · Quantitative Biology 2016-07-04 Kristiina Ausmees , Pushpam Aji John

Next-generation sequencing (NGS) is a pivotal technique in genome sequencing due to its high throughput, rapid results, cost-effectiveness, and enhanced accuracy. Its significance extends across various domains, playing a crucial role in…

Genomics · Quantitative Biology 2025-04-28 Fathima Nuzla Ismail , Shanika Amarasoma

High-throughput sequencing (HTS) technologies have revolutionized the field of genomics, enabling rapid and cost-effective genome analysis for various applications. However, the increasing volume of genomic data generated by HTS…

Hardware Architecture · Computer Science 2023-06-01 Onur Mutlu , Can Firtina

Programs based on hash tables and Burrows-Wheeler are very fast for mapping short reads to genomes but have low accuracy in the presence of mismatches and gaps. Such reads can be aligned accurately with the Smith-Waterman algorithm but it…

Genomics · Quantitative Biology 2014-11-19 Turki Turki , Usman Roshan

Motivation: Seed filtering is critical in DNA read mapping, a process where billions of DNA fragments (reads) sampled from a donor are mapped onto a reference genome to identify genomic variants of the donor. Read mappers 1) quickly…

Next-generation sequencing (NGS) technologies have enabled affordable sequencing of billions of short DNA fragments at high throughput, paving the way for population-scale genomics. Genomics data analytics at this scale requires overcoming…

Databases · Computer Science 2019-10-11 Darryl Ho , Jialin Ding , Sanchit Misra , Nesime Tatbul , Vikram Nathan , Vasimuddin Md , Tim Kraska

The rapidly changing landscape of sequencing technologies brings new opportunities to genomics research. Longer sequence reads and higher sequence throughput coupled with ever-improving base accuracy and decreasing per-base cost is now…

Genomics · Quantitative Biology 2022-09-20 René L. Warren

Massively parallel sequencing techniques have revolutionized biological and medical sciences by providing unprecedented insight into the genomes of humans, animals, and microbes. Modern sequencing platforms generate enormous amounts of…

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