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Documents authored by Medvedev, Paul

Document
DOI: 10.4230/LIPIcs.ESA.2025.18
Efficiency of Learned Indexes on Genome Spectra

Authors: Md. Hasin Abrar, Paul Medvedev, and Giorgio Vinciguerra

Published in: LIPIcs, Volume 351, 33rd Annual European Symposium on Algorithms (ESA 2025)

Abstract
Data structures on a multiset of genomic k-mers are at the heart of many bioinformatic tools. As genomic datasets grow in scale, the efficiency of these data structures increasingly depends on how well they leverage the inherent patterns in the data. One recent and effective approach is the use of learned indexes that approximate the rank function of a multiset using a piecewise linear function with very few segments. However, theoretical worst-case analysis struggles to predict the practical performance of these indexes. We address this limitation by developing a novel measure of piecewise-linear approximability of the data, called CaPLa (Canonical Piecewise Linear approximability). CaPLa builds on the empirical observation that a power-law model often serves as a reasonable proxy for piecewise linear-approximability, while explicitly accounting for deviations from a true power-law fit. We prove basic properties of CaPLa and present an efficient algorithm to compute it. We then demonstrate that CaPLa can accurately predict space bounds for data structures on real data. Empirically, we analyze over 500 genomes through the lens of CaPLa, revealing that it varies widely across the tree of life and even within individual genomes. Finally, we study the robustness of CaPLa as a measure and the factors that make genomic k-mer multisets different from random ones.
Cite as

Md. Hasin Abrar, Paul Medvedev, and Giorgio Vinciguerra. Efficiency of Learned Indexes on Genome Spectra. In 33rd Annual European Symposium on Algorithms (ESA 2025). Leibniz International Proceedings in Informatics (LIPIcs), Volume 351, pp. 18:1-18:18, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2025)

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@InProceedings{abrar_et_al:LIPIcs.ESA.2025.18,
  author =	{Abrar, Md. Hasin and Medvedev, Paul and Vinciguerra, Giorgio},
  title =	{{Efficiency of Learned Indexes on Genome Spectra}},
  booktitle =	{33rd Annual European Symposium on Algorithms (ESA 2025)},
  pages =	{18:1--18:18},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-395-9},
  ISSN =	{1868-8969},
  year =	{2025},
  volume =	{351},
  editor =	{Benoit, Anne and Kaplan, Haim and Wild, Sebastian and Herman, Grzegorz},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.ESA.2025.18},
  URN =		{urn:nbn:de:0030-drops-244865},
  doi =		{10.4230/LIPIcs.ESA.2025.18},
  annote =	{Keywords: Genome spectra, piecewise linear approximation, learned index, k-mers}
}
Artifact
Software
DOI: 10.4230/artifacts.24318
Repeat-Aware_Substitution_Rate_Estimator

Authors: Haonan Wu, Antonio Blanca, and Paul Medvedev

Abstract
Cite as

Haonan Wu, Antonio Blanca, Paul Medvedev. Repeat-Aware_Substitution_Rate_Estimator (Software, Source Code). Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2025)

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@misc{dagstuhl-artifact-24318,
   title = {{Repeat-Aware\underlineSubstitution\underlineRate\underlineEstimator}}, 
   author = {Wu, Haonan and Blanca, Antonio and Medvedev, Paul},
   note = {Software, swhId: \href{https://archive.softwareheritage.org/swh:1:dir:258c949c42d162c56f1e09a0ece39722a5076601;origin=https://github.com/medvedevgroup/Repeat-Aware_Substitution_Rate_Estimator;visit=swh:1:snp:d00bef0b995d0a1fd07763ae894cb8aed24d28ea;anchor=swh:1:rev:5f4180f6722018f2b8ba393683b76ab66c51925f}{\texttt{swh:1:dir:258c949c42d162c56f1e09a0ece39722a5076601}} (visited on 2025-08-15)},
   url = {https://github.com/medvedevgroup/Repeat-Aware_Substitution_Rate_Estimator},
   doi = {10.4230/artifacts.24318},
}
Document
DOI: 10.4230/LIPIcs.WABI.2025.16
Estimation of Substitution and Indel Rates via k-mer Statistics

Authors: Mahmudur Rahman Hera, Paul Medvedev, David Koslicki, and Antonio Blanca

Published in: LIPIcs, Volume 344, 25th International Conference on Algorithms for Bioinformatics (WABI 2025)

Abstract
Methods utilizing k-mers are widely used in bioinformatics, yet our understanding of their statistical properties under realistic mutation models remains incomplete. Previously, substitution-only mutation models have been considered to derive precise expectations and variances for mutated k-mers and intervals of mutated and non-mutated sequences. In this work, we consider a mutation model that incorporates insertions and deletions in addition to single-nucleotide substitutions. Within this framework, we derive closed-form k-mer-based estimators for the three fundamental mutation parameters: substitution, deletion rate, and insertion rates. We provide theoretical guarantees in the form of concentration inequalities, ensuring accuracy of our estimators under reasonable model assumptions. Empirical evaluations on simulated evolution of genomic sequences confirm our theoretical findings, demonstrating that accounting for insertions and deletions signals allows for accurate estimation of mutation rates and improves upon the results obtained by considering a substitution-only model. An implementation of estimating the mutation parameters from a pair of fasta files is available here: https://github.com/KoslickiLab/estimate_rates_using_mutation_model.git. The results presented in this manuscript can be reproduced using the code available here: https://github.com/KoslickiLab/est_rates_experiments.git.
Cite as

Mahmudur Rahman Hera, Paul Medvedev, David Koslicki, and Antonio Blanca. Estimation of Substitution and Indel Rates via k-mer Statistics. In 25th International Conference on Algorithms for Bioinformatics (WABI 2025). Leibniz International Proceedings in Informatics (LIPIcs), Volume 344, pp. 16:1-16:15, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2025)

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@InProceedings{rahmanhera_et_al:LIPIcs.WABI.2025.16,
  author =	{Rahman Hera, Mahmudur and Medvedev, Paul and Koslicki, David and Blanca, Antonio},
  title =	{{Estimation of Substitution and Indel Rates via k-mer Statistics}},
  booktitle =	{25th International Conference on Algorithms for Bioinformatics (WABI 2025)},
  pages =	{16:1--16:15},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-386-7},
  ISSN =	{1868-8969},
  year =	{2025},
  volume =	{344},
  editor =	{Brejov\'{a}, Bro\v{n}a and Patro, Rob},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2025.16},
  URN =		{urn:nbn:de:0030-drops-239422},
  doi =		{10.4230/LIPIcs.WABI.2025.16},
  annote =	{Keywords: k-mers, mutation rate, indel, alignment-free, estimation, substitution, insertion, deletion}
}
Document
DOI: 10.4230/LIPIcs.WABI.2025.20
A k-mer-Based Estimator of the Substitution Rate Between Repetitive Sequences

Authors: Haonan Wu, Antonio Blanca, and Paul Medvedev

Published in: LIPIcs, Volume 344, 25th International Conference on Algorithms for Bioinformatics (WABI 2025)

Abstract
K-mer-based analysis of genomic data is ubiquitous, but the presence of repetitive k-mers continues to pose problems for the accuracy of many methods. For example, the Mash tool (Ondov et al. 2016) can accurately estimate the substitution rate between two low-repetitive sequences from their k-mer sketches; however, it is inaccurate on repetitive sequences such as the centromere of a human chromosome. Follow-up work by Blanca et al. (2021) has attempted to model how mutations affect k-mer sets based on strong assumptions that the sequence is non-repetitive and that mutations do not create spurious k-mer matches. However, the theoretical foundations for extending an estimator like Mash to work in the presence of repeat sequences have been lacking. In this work, we relax the non-repetitive assumption and propose a novel estimator for the mutation rate. We derive theoretical bounds on our estimator’s bias. Our experiments show that it remains accurate for repetitive genomic sequences, such as the alpha satellite higher order repeats in centromeres. We demonstrate our estimator’s robustness across diverse datasets and various ranges of the substitution rate and k-mer size. Finally, we show how sketching can be used to avoid dealing with large k-mer sets while retaining accuracy. Our software is available at https://github.com/medvedevgroup/Repeat-Aware_Substitution_Rate_Estimator.
Cite as

Haonan Wu, Antonio Blanca, and Paul Medvedev. A k-mer-Based Estimator of the Substitution Rate Between Repetitive Sequences. In 25th International Conference on Algorithms for Bioinformatics (WABI 2025). Leibniz International Proceedings in Informatics (LIPIcs), Volume 344, pp. 20:1-20:20, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2025)

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@InProceedings{wu_et_al:LIPIcs.WABI.2025.20,
  author =	{Wu, Haonan and Blanca, Antonio and Medvedev, Paul},
  title =	{{A k-mer-Based Estimator of the Substitution Rate Between Repetitive Sequences}},
  booktitle =	{25th International Conference on Algorithms for Bioinformatics (WABI 2025)},
  pages =	{20:1--20:20},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-386-7},
  ISSN =	{1868-8969},
  year =	{2025},
  volume =	{344},
  editor =	{Brejov\'{a}, Bro\v{n}a and Patro, Rob},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2025.20},
  URN =		{urn:nbn:de:0030-drops-239465},
  doi =		{10.4230/LIPIcs.WABI.2025.20},
  annote =	{Keywords: k-mers, sketching, mutation rates}
}
Artifact
Software
DOI: 10.4230/artifacts.22506
pla-index

Authors: Md. Hasin Abrar and Paul Medvedev

Abstract
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Md. Hasin Abrar, Paul Medvedev. pla-index (Software). Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2024)

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@misc{dagstuhl-artifact-22506,
   title = {{pla-index}}, 
   author = {Abrar, Md. Hasin and Medvedev, Paul},
   note = {Software, swhId: \href{https://archive.softwareheritage.org/swh:1:dir:a5ea07d009da014aff392e5896ba14b7376eba13;origin=https://github.com/medvedevgroup/pla-index;visit=swh:1:snp:7244e0b6165e37aa5e4a617ddeff2bfac291bdd6;anchor=swh:1:rev:3702e31ecccb31ef2081066a59541b4cc33b9f74}{\texttt{swh:1:dir:a5ea07d009da014aff392e5896ba14b7376eba13}} (visited on 2024-11-28)},
   url = {https://github.com/medvedevgroup/pla-index},
   doi = {10.4230/artifacts.22506},
}
Document
DOI: 10.4230/LIPIcs.WABI.2024.8
Applying the Safe-And-Complete Framework to Practical Genome Assembly

Authors: Sebastian Schmidt, Santeri Toivonen, Paul Medvedev, and Alexandru I. Tomescu

Published in: LIPIcs, Volume 312, 24th International Workshop on Algorithms in Bioinformatics (WABI 2024)

Abstract
Despite the long history of genome assembly research, there remains a large gap between the theoretical and practical work. There is practical software with little theoretical underpinning of accuracy on one hand and theoretical algorithms which have not been adopted in practice on the other. In this paper we attempt to bridge the gap between theory and practice by showing how the theoretical safe-and-complete framework can be integrated into existing assemblers in order to improve contiguity. The optimal algorithm in this framework, called the omnitig algorithm, has not been used in practice due to its complexity and its lack of robustness to real data. Instead, we pursue a simplified notion of omnitigs (simple omnitigs), giving an efficient algorithm to compute them and demonstrating their safety under certain conditions. We modify two assemblers (wtdbg2 and Flye) by replacing their unitig algorithm with the simple omnitig algorithm. We test our modifications using real HiFi data from the D. melanogaster and the C. elegans genomes. Our modified algorithms lead to a substantial improvement in alignment-based contiguity, with negligible additional computational costs and either no or a small increase in the number of misassemblies.
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Sebastian Schmidt, Santeri Toivonen, Paul Medvedev, and Alexandru I. Tomescu. Applying the Safe-And-Complete Framework to Practical Genome Assembly. In 24th International Workshop on Algorithms in Bioinformatics (WABI 2024). Leibniz International Proceedings in Informatics (LIPIcs), Volume 312, pp. 8:1-8:16, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2024)

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@InProceedings{schmidt_et_al:LIPIcs.WABI.2024.8,
  author =	{Schmidt, Sebastian and Toivonen, Santeri and Medvedev, Paul and Tomescu, Alexandru I.},
  title =	{{Applying the Safe-And-Complete Framework to Practical Genome Assembly}},
  booktitle =	{24th International Workshop on Algorithms in Bioinformatics (WABI 2024)},
  pages =	{8:1--8:16},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-340-9},
  ISSN =	{1868-8969},
  year =	{2024},
  volume =	{312},
  editor =	{Pissis, Solon P. and Sung, Wing-Kin},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2024.8},
  URN =		{urn:nbn:de:0030-drops-206520},
  doi =		{10.4230/LIPIcs.WABI.2024.8},
  annote =	{Keywords: Genome assembly, Omnitigs, Safe-and-complete framework, graph algorithm, HiFi sequencing data, Assembly evaluation}
}
Document
DOI: 10.4230/LIPIcs.WABI.2024.13
PLA-index: A k-mer Index Exploiting Rank Curve Linearity

Authors: Md. Hasin Abrar and Paul Medvedev

Published in: LIPIcs, Volume 312, 24th International Workshop on Algorithms in Bioinformatics (WABI 2024)

Abstract
Given a sorted list of k-mers S, the rank curve of S is the function mapping a k-mer from the k-mer universe to the location in S where it either first appears or would be inserted. An exciting recent development is the observation that, for certain datasets, the rank curve is predictable and can be exploited to create small search indices. In this paper, we develop a novel search index that first estimates a k-mer’s rank using a piece-wise linear approximation of the rank curve and then does a local search to determine the precise location of the k-mer in the list. We combine ideas from previous approaches and supplement them with an innovative data representation strategy that substantially reduces space usage. Our PLA-index uses an order of magnitude less space than Sapling and uses less than half the space of the PGM-index, for roughly the same query time. For example, using only 9 MiB of memory, it can narrow down the position of k-mer in the suffix array of the human genome to within 255 positions. Furthermore, we demonstrate the potential of our approach to impact a variety of downstream applications. First, the PLA-index halves the time of binary search on the suffix array of the human genome. Second, the PLA-index reduces the space of a direct-access lookup table by 76 percent, without increasing the run time. Third, we plug the PLA-index into a state-of-the-art read aligner Strobealign and replace a 2 GiB component with a PLA-index of size 1.5 MiB, without significantly effecting runtime. The software and reproducibility information is freely available at https://github.com/medvedevgroup/pla-index.
Cite as

Md. Hasin Abrar and Paul Medvedev. PLA-index: A k-mer Index Exploiting Rank Curve Linearity. In 24th International Workshop on Algorithms in Bioinformatics (WABI 2024). Leibniz International Proceedings in Informatics (LIPIcs), Volume 312, pp. 13:1-13:18, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2024)

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@InProceedings{abrar_et_al:LIPIcs.WABI.2024.13,
  author =	{Abrar, Md. Hasin and Medvedev, Paul},
  title =	{{PLA-index: A k-mer Index Exploiting Rank Curve Linearity}},
  booktitle =	{24th International Workshop on Algorithms in Bioinformatics (WABI 2024)},
  pages =	{13:1--13:18},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-340-9},
  ISSN =	{1868-8969},
  year =	{2024},
  volume =	{312},
  editor =	{Pissis, Solon P. and Sung, Wing-Kin},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2024.13},
  URN =		{urn:nbn:de:0030-drops-206578},
  doi =		{10.4230/LIPIcs.WABI.2024.13},
  annote =	{Keywords: K-mer index, Piece-wise linear approximation, Learned index}
}
Document
DOI: 10.4230/LIPIcs.WABI.2023.14
Exact Sketch-Based Read Mapping

Authors: Tizian Schulz and Paul Medvedev

Published in: LIPIcs, Volume 273, 23rd International Workshop on Algorithms in Bioinformatics (WABI 2023)

Abstract
Given a sequencing read, the broad goal of read mapping is to find the location(s) in the reference genome that have a "similar sequence". Traditionally, "similar sequence" was defined as having a high alignment score and read mappers were viewed as heuristic solutions to this well-defined problem. For sketch-based mappers, however, there has not been a problem formulation to capture what problem an exact sketch-based mapping algorithm should solve. Moreover, there is no sketch-based method that can find all possible mapping positions for a read above a certain score threshold. In this paper, we formulate the problem of read mapping at the level of sequence sketches. We give an exact dynamic programming algorithm that finds all hits above a given similarity threshold. It runs in {O}(|t| + |p| + 𝓁²) time and Θ(𝓁²) space, where |t| is the number of k-mers inside the sketch of the reference, |p| is the number of k-mers inside the read’s sketch and 𝓁 is the number of times that k-mers from the pattern sketch occur in the sketch of the text. We evaluate our algorithm’s performance in mapping long reads to the T2T assembly of human chromosome Y, where ampliconic regions make it desirable to find all good mapping positions. For an equivalent level of precision as minimap2, the recall of our algorithm is 0.88, compared to only 0.76 of minimap2.
Cite as

Tizian Schulz and Paul Medvedev. Exact Sketch-Based Read Mapping. In 23rd International Workshop on Algorithms in Bioinformatics (WABI 2023). Leibniz International Proceedings in Informatics (LIPIcs), Volume 273, pp. 14:1-14:19, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2023)

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@InProceedings{schulz_et_al:LIPIcs.WABI.2023.14,
  author =	{Schulz, Tizian and Medvedev, Paul},
  title =	{{Exact Sketch-Based Read Mapping}},
  booktitle =	{23rd International Workshop on Algorithms in Bioinformatics (WABI 2023)},
  pages =	{14:1--14:19},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-294-5},
  ISSN =	{1868-8969},
  year =	{2023},
  volume =	{273},
  editor =	{Belazzougui, Djamal and Ouangraoua, A\"{i}da},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2023.14},
  URN =		{urn:nbn:de:0030-drops-186403},
  doi =		{10.4230/LIPIcs.WABI.2023.14},
  annote =	{Keywords: Sequence Sketching, Long-read Mapping, Exact Algorithm, Dynamic Programming}
}
Document
DOI: 10.4230/LIPIcs.WABI.2023.17
Compression Algorithm for Colored de Bruijn Graphs

Authors: Amatur Rahman, Yoann Dufresne, and Paul Medvedev

Published in: LIPIcs, Volume 273, 23rd International Workshop on Algorithms in Bioinformatics (WABI 2023)

Abstract
A colored de Bruijn graph (also called a set of k-mer sets), is a set of k-mers with every k-mer assigned a set of colors. Colored de Bruijn graphs are used in a variety of applications, including variant calling, genome assembly, and database search. However, their size has posed a scalability challenge to algorithm developers and users. There have been numerous indexing data structures proposed that allow to store the graph compactly while supporting fast query operations. However, disk compression algorithms, which do not need to support queries on the compressed data and can thus be more space-efficient, have received little attention. The dearth of specialized compression tools has been a detriment to tool developers, tool users, and reproducibility efforts. In this paper, we develop a new tool that compresses colored de Bruijn graphs to disk, building on previous ideas for compression of k-mer sets and indexing colored de Bruijn graphs. We test our tool, called ESS-color, on various datasets, including both sequencing data and whole genomes. ESS-color achieves better compression than all evaluated tools and all datasets, with no other tool able to consistently achieve less than 44% space overhead.
Cite as

Amatur Rahman, Yoann Dufresne, and Paul Medvedev. Compression Algorithm for Colored de Bruijn Graphs. In 23rd International Workshop on Algorithms in Bioinformatics (WABI 2023). Leibniz International Proceedings in Informatics (LIPIcs), Volume 273, pp. 17:1-17:14, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2023)

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@InProceedings{rahman_et_al:LIPIcs.WABI.2023.17,
  author =	{Rahman, Amatur and Dufresne, Yoann and Medvedev, Paul},
  title =	{{Compression Algorithm for Colored de Bruijn Graphs}},
  booktitle =	{23rd International Workshop on Algorithms in Bioinformatics (WABI 2023)},
  pages =	{17:1--17:14},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-294-5},
  ISSN =	{1868-8969},
  year =	{2023},
  volume =	{273},
  editor =	{Belazzougui, Djamal and Ouangraoua, A\"{i}da},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2023.17},
  URN =		{urn:nbn:de:0030-drops-186434},
  doi =		{10.4230/LIPIcs.WABI.2023.17},
  annote =	{Keywords: colored de Bruijn graphs, disk compression, k-mer sets, simplitigs, spectrum-preserving string sets}
}
Document
DOI: 10.4230/LIPIcs.WABI.2020.16
Disk Compression of k-mer Sets

Authors: Amatur Rahman, Rayan Chikhi, and Paul Medvedev

Published in: LIPIcs, Volume 172, 20th International Workshop on Algorithms in Bioinformatics (WABI 2020)

Abstract
K-mer based methods have become prevalent in many areas of bioinformatics. In applications such as database search, they often work with large multi-terabyte-sized datasets. Storing such large datasets is a detriment to tool developers, tool users, and reproducibility efforts. General purpose compressors like gzip, or those designed for read data, are sub-optimal because they do not take into account the specific redundancy pattern in k-mer sets. In our earlier work (Rahman and Medvedev, RECOMB 2020), we presented an algorithm UST-Compress that uses a spectrum-preserving string set representation to compress a set of k-mers to disk. In this paper, we present two improved methods for disk compression of k-mer sets, called ESS-Compress and ESS-Tip-Compress. They use a more relaxed notion of string set representation to further remove redundancy from the representation of UST-Compress. We explore their behavior both theoretically and on real data. We show that they improve the compression sizes achieved by UST-Compress by up to 27 percent, across a breadth of datasets. We also derive lower bounds on how well this type of compression strategy can hope to do.
Cite as

Amatur Rahman, Rayan Chikhi, and Paul Medvedev. Disk Compression of k-mer Sets. In 20th International Workshop on Algorithms in Bioinformatics (WABI 2020). Leibniz International Proceedings in Informatics (LIPIcs), Volume 172, pp. 16:1-16:18, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2020)

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@InProceedings{rahman_et_al:LIPIcs.WABI.2020.16,
  author =	{Rahman, Amatur and Chikhi, Rayan and Medvedev, Paul},
  title =	{{Disk Compression of k-mer Sets}},
  booktitle =	{20th International Workshop on Algorithms in Bioinformatics (WABI 2020)},
  pages =	{16:1--16:18},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-161-0},
  ISSN =	{1868-8969},
  year =	{2020},
  volume =	{172},
  editor =	{Kingsford, Carl and Pisanti, Nadia},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2020.16},
  URN =		{urn:nbn:de:0030-drops-128057},
  doi =		{10.4230/LIPIcs.WABI.2020.16},
  annote =	{Keywords: de Bruijn graphs, compression, k-mer sets, spectrum-preserving string sets}
}
Document
DOI: 10.4230/LIPIcs.CPM.2017.29
Optimal Omnitig Listing for Safe and Complete Contig Assembly

Authors: Massimo Cairo, Paul Medvedev, Nidia Obscura Acosta, Romeo Rizzi, and Alexandru I. Tomescu

Published in: LIPIcs, Volume 78, 28th Annual Symposium on Combinatorial Pattern Matching (CPM 2017)

Abstract
Genome assembly is the problem of reconstructing a genome sequence from a set of reads from a sequencing experiment. Typical formulations of the assembly problem admit in practice many genomic reconstructions, and actual genome assemblers usually output contigs, namely substrings that are promised to occur in the genome. To bridge the theory and practice, Tomescu and Medvedev [RECOMB 2016] reformulated contig assembly as finding all substrings common to all genomic reconstructions. They also gave a characterization of those walks (omnitigs) that are common to all closed edge-covering walks of a (directed) graph, a typical notion of genomic reconstruction. An algorithm for listing all maximal omnitigs was also proposed, by launching an exhaustive visit from every edge. In this paper, we prove new insights about the structure of omnitigs and solve several open questions about them. We combine these to achieve an O(nm)-time algorithm for outputting all the maximal omnitigs of a graph (with n nodes and m edges). This is also optimal, as we show families of graphs whose total omnitig length is Omega(nm). We implement this algorithm and show that it is 9-12 times faster in practice than the one of Tomescu and Medvedev [RECOMB 2016].
Cite as

Massimo Cairo, Paul Medvedev, Nidia Obscura Acosta, Romeo Rizzi, and Alexandru I. Tomescu. Optimal Omnitig Listing for Safe and Complete Contig Assembly. In 28th Annual Symposium on Combinatorial Pattern Matching (CPM 2017). Leibniz International Proceedings in Informatics (LIPIcs), Volume 78, pp. 29:1-29:12, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2017)

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@InProceedings{cairo_et_al:LIPIcs.CPM.2017.29,
  author =	{Cairo, Massimo and Medvedev, Paul and Obscura Acosta, Nidia and Rizzi, Romeo and Tomescu, Alexandru I.},
  title =	{{Optimal Omnitig Listing for Safe and Complete Contig Assembly}},
  booktitle =	{28th Annual Symposium on Combinatorial Pattern Matching (CPM 2017)},
  pages =	{29:1--29:12},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-039-2},
  ISSN =	{1868-8969},
  year =	{2017},
  volume =	{78},
  editor =	{K\"{a}rkk\"{a}inen, Juha and Radoszewski, Jakub and Rytter, Wojciech},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.CPM.2017.29},
  URN =		{urn:nbn:de:0030-drops-73423},
  doi =		{10.4230/LIPIcs.CPM.2017.29},
  annote =	{Keywords: genome assembly, graph algorithm, edge-covering walk, strong bridge}
}
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