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Related papers: Do Read Errors Matter for Genome Assembly?

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DNA is subject to large deformations in a wide range of biological processes. Two key examples illustrate how such deformations influence the readout of the genetic information: the sequestering of eukaryotic genes by nucleosomes, and DNA…

Biomolecules · Quantitative Biology 2015-11-10 Stephanie Johnson , Martin Lindén , Rob Phillips

We study a minimal model for genome evolution whose elementary processes are single site mutation, duplication and deletion of sequence regions and insertion of random segments. These processes are found to generate long-range correlations…

Genomics · Quantitative Biology 2007-05-23 Philipp W. Messer , Peter F. Arndt , Michael Lässig

Genome and metagenome comparisons based on large amounts of next-generation sequencing (NGS) data pose significant challenges for alignment-based approaches due to the huge data size and the relatively short length of the reads.…

Quantitative Methods · Quantitative Biology 2018-03-28 Jie Ren , Xin Bai , Yang Young Lu , Kujin Tang , Ying Wang , Gesine Reinert , Fengzhu Sun

Although the expenses associated with DNA sequencing have been rapidly decreasing, the current cost of sequencing information stands at roughly $120/GB, which is dramatically more expensive than reading from existing archival storage…

Discrete Mathematics · Computer Science 2023-11-30 Daniella Bar-Lev , Omer Sabary , Ryan Gabrys , Eitan Yaakobi

Synthesis of DNA molecules offers unprecedented advances in storage technology. Yet, the microscopic world in which these molecules reside induces error patterns that are fundamentally different from their digital counterparts. Hence, to…

Information Theory · Computer Science 2017-08-08 Netanel Raviv , Moshe Schwartz , Eitan Yaakobi

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

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

In just the last decade, a multitude of bio-technologies and software pipelines have emerged to revolutionize genomics. To further their central goal, they aim to accelerate and improve the quality of de novo whole-genome assembly starting…

Genomics · Quantitative Biology 2015-06-11 Francesco Vezzi , Giuseppe Narzisi , Bud Mishra

For single-cell or metagenomic sequencing projects, it is necessary to sequence with a very high mean coverage in order to make sure that all parts of the sample DNA get covered by the reads produced. This leads to huge datasets with lots…

DNA is an attractive medium for digital data storage. When data is stored on DNA, errors occur, which makes error-correcting coding techniques critical for reliable DNA data storage. To reduce the errors, a common technique is to include…

Information Theory · Computer Science 2024-06-27 Franziska Weindel , Andreas L. Gimpel , Robert N. Grass , Reinhard Heckel

Long reads produced by third-generation sequencing technologies are used to construct an assembly (i.e., the subject's genome), which is further used in downstream genome analysis. Unfortunately, long reads have high sequencing error rates…

Genomics · Quantitative Biology 2020-10-29 Can Firtina , Jeremie S. Kim , Mohammed Alser , Damla Senol Cali , A. Ercument Cicek , Can Alkan , Onur Mutlu

RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput…

Genomics · Quantitative Biology 2015-06-19 Hyunghoon Cho , Joe Davis , Xin Li , Kevin S. Smith , Alexis Battle , Stephen B. Montgomery

Whole transcriptome sequencing is increasingly being used as a functional genomics tool to study non- model organisms. However, when the reference transcriptome used to calculate differential expression is incomplete, significant error in…

Genomics · Quantitative Biology 2013-03-12 Alexis Black Pyrkosz , Hans Cheng , C. Titus Brown

The third-generation long reads sequencing technologies, such as PacBio and Nanopore, have great advantages over second-generation Illumina sequencing in de novo assembly studies. However, due to the inherent low base accuracy,…

Genomics · Quantitative Biology 2020-03-27 Hengchao Wang , Bo Liu , Yan Zhang , Fan Jiang , Yuwei Ren , Lijuan Yin , Hangwei Liu , Sen Wang , Wei Fan

Owing to its longevity and enormous information density, DNA, the molecule encoding biological information, has emerged as a promising archival storage medium. However, due to technological constraints, data can only be written onto many…

Emerging Technologies · Computer Science 2018-03-12 Reinhard Heckel , Gediminas Mikutis , Robert N. Grass

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…

Read mapping is a fundamental, yet computationally-expensive step in many genomics applications. It is used to identify potential matches and differences between fragments (called reads) of a sequenced genome and an already known genome…

In this paper, we consider a concatenated coding based class of DNA storage codes in which the selected molecules are constrained to be taken from an ``inner'' codebook associated with the sequencing channel. This codebook is used in a…

Information Theory · Computer Science 2025-06-19 Yan Hao Ling , Jonathan Scarlett

The paper describes an algorithm to compute a consensus sequence from a set of DNA sequences of approximatively identical length generated by 3rd sequencing generation technologies. Its purpose targets DNA storage and is guided by specific…

Data Structures and Algorithms · Computer Science 2021-05-12 Dominique Lavenier

DNA synthesis is considered as one of the most expensive components in current DNA storage systems. In this paper, focusing on a common synthesis machine, which generates multiple DNA strands in parallel following a fixed supersequence,we…

Information Theory · Computer Science 2025-05-13 Yajuan Liu , Tolga M. Duman