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Genome assembly is a fundamental problem in Bioinformatics, where for a given set of overlapping substrings of a genome, the aim is to reconstruct the source genome. The classical approaches to solving this problem use assembly graphs, such…

Data Structures and Algorithms · Computer Science 2021-06-14 Shahbaz Khan

De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until…

Genomics · Quantitative Biology 2023-08-16 Heng Li , Richard Durbin

Language models can be sampled multiple times to access the distribution underlying their responses, but existing methods cannot efficiently synthesize rich epistemic signals across different long-form responses. We introduce Consensus…

Computation and Language · Computer Science 2025-10-07 Sayan Ghosh , Shahzaib Saqib Warraich , Dhruv Tarsadiya , Gregory Yauney , Swabha Swayamdipta

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

A quest to determine the complete sequence of a human DNA from telomere to telomere started three decades ago and was finally completed in 2021. This accomplishment was a result of a tremendous effort of numerous experts who engineered…

Genomics · Quantitative Biology 2022-06-03 Lovro Vrček , Xavier Bresson , Thomas Laurent , Martin Schmitz , Mile Šikić

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

In computational genomics, many analyses rely on efficient storage and traversal of $k$-mers, motivating compact representations such as spectrum-preserving string sets (SPSS), which store strings whose $k$-mer spectrum matches that of the…

Data Structures and Algorithms · Computer Science 2026-02-24 Sankardeep Chakraborty , Roberto Grossi , Ren Kimura , Giulia Punzi , Kunihiko Sadakane , Wiktor Zuba

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

Identifying palindromes in sequences has been an interesting line of research in combinatorics on words and also in computational biology, after the discovery of the relation of palindromes in the DNA sequence with the HIV virus. Efficient…

Data Structures and Algorithms · Computer Science 2017-03-28 Michał Adamczyk , Mai Alzamel , Panagiotis Charalampopoulos , Costas S. Iliopoulos , Jakub Radoszewski

Genome assembly using high throughput data with short reads, arguably, remains an unresolvable task in repetitive genomes, since when the length of a repeat exceeds the read length, it becomes difficult to unambiguously connect the flanking…

Quantitative Methods · Quantitative Biology 2013-07-31 Viraj Deshpande , Eric DK Fung , Son Pham , Vineet Bafna

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

The de Bruijn graph $G_K$ of a set of strings $S$ is a key data structure in genome assembly that represents overlaps between all the $K$-length substrings of $S$. Construction and navigation of the graph is a space and time bottleneck in…

Data Structures and Algorithms · Computer Science 2014-11-18 Christina Boucher , Alex Bowe , Travis Gagie , Simon J. Puglisi , Kunihiko Sadakane

In this paper, we consider two versions of the Text Assembling problem. We are given a sequence of strings $s^1,\dots,s^n$ of total length $L$ that is a dictionary, and a string $t$ of length $m$ that is texts. The first version of the…

Quantum Physics · Physics 2024-04-05 Kamil Khadiev , Carlos Manuel Bosch Machado , Zeyu Chen , Junde Wu

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

This paper studies reconstruction of strings based upon their substrings spectrum. Under this paradigm, it is assumed that all substrings of some fixed length are received and the goal is to reconstruct the string. While many existing works…

Information Theory · Computer Science 2021-06-02 Sagi Marcovich , Eitan Yaakobi

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

Generalizations of plain strings have been proposed as a compact way to represent a collection of nearly identical sequences or to express uncertainty at specific text positions by enumerating all possibilities. While a plain string stores…

Data Structures and Algorithms · Computer Science 2024-11-19 Dominik Köppl , Jannik Olbrich

Metagenomics research has accelerated the studies of microbial organisms, providing insights into the composition and potential functionality of various microbial communities. Metatranscriptomics (studies of the transcripts from a mixture…

Genomics · Quantitative Biology 2015-04-07 Yuzhen Ye , Haixu Tang

Several biological problems require the identification of regions in a sequence where some feature occurs within a target density range: examples including the location of GC-rich regions, identification of CpG islands, and sequence…

Data Structures and Algorithms · Computer Science 2013-08-15 Benjamin A. Burton , Mathias Hiron

Reducing the cost of sequencing genomes provided by next-generation sequencing technologies has greatly increased the number of genomic projects. As a result, there is a growing need for better assembly and assembly validation methods. One…

Genomics · Quantitative Biology 2022-10-17 Przemysław Stawczyk , Robert Nowak