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In this paper, fundamental limits in sequencing of a set of closely related DNA molecules are addressed. This problem is called pooled-DNA sequencing which encompasses many interesting problems such as haplotype phasing, metageomics, and…

Information Theory · Computer Science 2016-04-20 Amir Najafi , Damoun Nashta-ali , Seyed Abolfazl Motahari , Mehrdad Khani , Babak H. Khalaj , Hamid R. Rabiee

A crucial problem in genome assembly is the discovery and correction of misassembly errors in draft genomes. We develop a method that will enhance the quality of draft genomes by identifying and removing misassembly errors using paired…

Genomics · Quantitative Biology 2014-11-24 Martin D. Muggli , Simon J. Puglisi , Roy Ronen , Christina Boucher

DNA sequencing is the basic workhorse of modern day biology and medicine. Shotgun sequencing is the dominant technique used: many randomly located short fragments called reads are extracted from the DNA sequence, and these reads are…

Information Theory · Computer Science 2013-02-15 Abolfazl Motahari , Guy Bresler , David Tse

This paper introduces a new family of reconstruction codes which is motivated by applications in DNA data storage and sequencing. In such applications, DNA strands are sequenced by reading some subset of their substrings. While previous…

Information Theory · Computer Science 2022-05-10 Yonatan Yehezkeally , Daniella Bar-Lev , Sagi Marcovich , Eitan Yaakobi

(An updated version of this manuscript has been accepted to Scientific Reports in 2016, please refer to http://www.nature.com/articles/srep31900) The highly anticipated transition from next generation sequencing (NGS) to third generation…

Genomics · Quantitative Biology 2016-09-06 Chengxi Ye , Chris Hill , Shigang Wu , Jue Ruan , Zhanshan , Ma

We formulate genome assembly problem as an optimization problem in which the objective function is the likelihood of the assembly given the reads.

Computational Engineering, Finance, and Science · Computer Science 2016-04-08 Mohammadreza Ghodsi

Earlier formulations of the DNA assembly problem were all in the context of perfect assembly; i.e., given a set of reads from a long genome sequence, is it possible to perfectly reconstruct the original sequence? In practice, however, it is…

Information Theory · Computer Science 2016-05-09 Ilan Shomorony , Govinda M. Kamath , Fei Xia , Thomas A. Courtade , David N. Tse

De novo genome assembly focuses on finding connections between a vast amount of short sequences in order to reconstruct the original genome. The central problem of genome assembly could be described as finding a Hamiltonian path through a…

Machine Learning · Computer Science 2020-11-11 Lovro Vrček , Petar Veličković , Mile Šikić

An exact-match overlap graph of $n$ given strings of length $\ell$ is an edge-weighted graph in which each vertex is associated with a string and there is an edge $(x,y)$ of weight $\omega = \ell - |ov_{max}(x,y)|$ if and only if $\omega…

Data Structures and Algorithms · Computer Science 2010-09-22 Hieu Dinh , Sanguthevar Rajasekaran

In the past several years, the problem of genome assembly has received considerable attention from both biologists and computer scientists. An important component of current assembly methods is the scaffolding process. This process involves…

Genomics · Quantitative Biology 2013-07-03 Karl R. B. Schmitt , Aleksey V. Zimin , Guillaume Marcaçs , James A. Yorke , Michelle Girvan

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

Genome rearrangements are events in which large blocks of DNA exchange pieces during evolution. The analysis of such events is a tool for understanding evolutionary genomics, based on finding the minimum number of rearrangements to…

Computational Complexity · Computer Science 2025-04-29 Luís Cunha , Thiago Lopes , Arnaud Mary

Genome rearrangements are events where large blocks of DNA exchange places during evolution. The analysis of these events is a promising tool for understanding evolutionary genomics, providing data for phylogenetic reconstruction based on…

Computational Complexity · Computer Science 2023-11-30 Luís Cunha , Ignasi Sau , Uéverton Souza

As DNA data storage moves closer to practical deployment, minimizing sequencing coverage depth is essential to reduce both operational costs and retrieval latency. This paper addresses the recently studied Random Access Problem, which…

Information Theory · Computer Science 2026-01-13 Chen Wang , Eitan Yaakobi

As computer scientists working in bioinformatics/computational biology, we often face the challenge of coming up with an algorithm to answer a biological question. This occurs in many areas, such as variant calling, alignment, and assembly.…

Data Structures and Algorithms · Computer Science 2018-01-04 Paul Medvedev

In this paper we present a collection of results pertaining to haplotyping. The first set of results concerns the combinatorial problem of reconstructing haplotypes from incomplete and/or imperfectly sequenced haplotype data. More…

Genomics · Quantitative Biology 2007-05-23 Rudi Cilibrasi , Leo van Iersel , Steven Kelk , John Tromp

Tandem duplication in DNA is the process of inserting a copy of a segment of DNA adjacent to the original position. Motivated by applications that store data in living organisms, Jain {\em et al.} (2016) proposed the study of codes that…

Combinatorics · Mathematics 2017-11-20 Yeow Meng Chee , Johan Chrisnata , Han Mao Kiah , Tuan Thanh Nguyen

Genome rearrangement is a common model for molecular evolution. In this paper, we consider the Pairwise Rearrangement problem, which takes as input two genomes and asks for the number of minimum-length sequences of permissible operations…

This paper introduces a new family of reconstruction codes which is motivated by applications in DNA data storage and sequencing. In such applications, DNA strands are sequenced by reading some subset of their substrings. While previous…

Information Theory · Computer Science 2023-04-21 Yonatan Yehezkeally , Daniella Bar-Lev , Sagi Marcovich , Eitan Yaakobi

Genome assembly is a fundamental problem in Bioinformatics, requiring to reconstruct a source genome from an assembly graph built from a set of reads (short strings sequenced from the genome). A notion of genome assembly solution is that of…

Discrete Mathematics · Computer Science 2021-11-03 Massimo Cairo , Shahbaz Khan , Romeo Rizzi , Sebastian Schmidt , Alexandru I. Tomescu , Elia C. Zirondelli