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Recent work identified the fundamental limits on the information requirements in terms of read length and coverage depth required for successful de novo genome reconstruction from shotgun sequencing data, based on the idealistic assumption…

Genomics · Quantitative Biology 2014-02-28 Ka-Kit Lam , Asif Khalak , David Tse

The repeat content and heterozygosity rate of a target genome are important factors in determining the feasibility of achieving a complete telomere-to-telomere assembly. The mathematical relationship between the required coverage and read…

Information Theory · Computer Science 2025-04-08 Daanish Mahajan , Chirag Jain , Navin Kashyap

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

Genome sequencing is the basis for many modern biological and medicinal studies. With recent technological advances, metagenomics has become a problem of interest. This problem entails the analysis and reconstruction of multiple DNA…

Probability · Mathematics 2022-01-14 Marlee Herring

The prevalent technique for DNA sequencing consists of two main steps: shotgun sequencing, where many randomly located fragments, called reads, are extracted from the overall sequence, followed by an assembly algorithm that aims to…

Genomics · Quantitative Biology 2016-01-28 Shirshendu Ganguly , Elchanan Mossel , Miklos Z. Racz

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

Most DNA sequencing technologies are based on the shotgun paradigm: many short reads are obtained from random unknown locations in the DNA sequence. A fundamental question, studied in arXiv:1203.6233, is what read length and coverage depth…

Information Theory · Computer Science 2022-02-09 Aditya Narayan Ravi , Alireza Vahid , Ilan Shomorony

The first step in any genome assembly algorithm entails the conversion from the domain of strings and overlaps to the language of graphs and paths, typically using one of the two conventional methods: de Bruijn graphs or overlap graphs.…

Genomics · Quantitative Biology 2026-04-27 Anton Bankevich

De novo genome assembly is challenging in highly repetitive regions; however, reference-guided assemblers often suffer from bias. We propose a framework for pangenome-guided sequence assembly, which can resolve short-read data in complex…

Quantum Physics · Physics 2026-02-11 Josh Cudby , James Bonfield , Chenxi Zhou , Richard Durbin , Sergii Strelchuk

We consider the problem of reconstructing graphs or labeled graphs from neighborhoods of a given radius r. Special instances of this problem include the well known: DNA shotgun assembly; the lesser-known: neural network reconstruction; and…

Probability · Mathematics 2022-08-19 Elchanan Mossel , Nathan Ross

Graph shotgun assembly refers to the problem of reconstructing a graph from a collection of local neighborhoods. In this paper, we consider shotgun assembly of \ER random graphs $G(n, p_n)$, where $p_n = n^{-\alpha}$ for $0 < \alpha < 1$.…

Probability · Mathematics 2022-01-14 Julia Gaudio , Elchanan Mossel

Over the past two decades, a series of works have aimed at studying the problem of genome assembly: the process of reconstructing a genome from sequence reads. An early formulation of the genome assembly problem showed that genome…

Genomics · Quantitative Biology 2013-12-30 Henry Lin

The problem of assembling DNA fragments starting from imperfect strings given by a sequencer, classified as NP hard when trying to get perfect answers, has a huge importance in several fields, because of its relation with the possibility of…

Data Structures and Algorithms · Computer Science 2017-05-26 Juan Manuel Ciro Restrepo , Andrés Felipe Zapata Palacio , Mauricio Toro

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

Deep shotgun sequencing and analysis of genomes, transcriptomes, amplified single-cell genomes, and metagenomes has enabled investigation of a wide range of organisms and ecosystems. However, sampling variation in short-read data sets and…

Genomics · Quantitative Biology 2012-05-22 C. Titus Brown , Adina Howe , Qingpeng Zhang , Alexis B. Pyrkosz , Timothy H. Brom

We study permutations over the set of $\ell$-grams, that are feasible in the sense that there is a sequence whose $\ell$-gram frequency has the same ranking as the permutation. Codes, which are sets of feasible permutations, protect…

Information Theory · Computer Science 2021-01-18 Niv Beeri , Moshe Schwartz

This paper is focused in designing an efficient on-line algorithm to reconstruct a DNA sequence and search the genes in it, we assume that the segment have no mutation or reading error, the algorithm is based on de Bruijn Graph for…

Data Structures and Algorithms · Computer Science 2017-06-12 Juan David Arcila Moreno , Santiago Passos , Mauricio Toro

de Bruijn graph-based algorithms are one of the two most widely used approaches for de novo genome assembly. A major limitation of this approach is the large computational memory space requirement to construct the de Bruijn graph, which…

Data Structures and Algorithms · Computer Science 2011-07-11 Chengxi Ye , Zhanshan Sam Ma , Charles H. Cannon , Mihai Pop , Douglas W. Yu

(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

Genome assembly from the high-throughput sequencing (HTS) reads is a fundamental yet challenging computational problem. An intrinsic challenge is the uncertainty caused by the widespread repetitive elements. Here we get around the…

Genomics · Quantitative Biology 2016-09-13 Anqi Wang , Zheng Li , Zhanyu Wang , Lei M. Li
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