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This paper provides a comprehensive survey of data structures for representing k-mer sets, which are fundamental in high-throughput sequencing analysis. It categorizes the methods into two main strategies: those using fingerprinting and…

Genomics · Quantitative Biology 2024-09-13 Camille Marchet

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

Recent studies in DNA sequence classification have leveraged sophisticated machine learning techniques, achieving notable accuracy in categorizing complex genomic data. Among these, methods such as k-mer counting have proven effective in…

Genomics · Quantitative Biology 2024-01-26 Şükrü Ozan

De novo assembly enables investigations of unknown genomes, paving the way for personalized medicine and disease management. However, it faces immense computational challenges arising from the excessive data volumes and algorithmic…

Hardware Architecture · Computer Science 2025-05-14 Heewoo Kim , Sanjay Sri Vallabh Singapuram , Haojie Ye , Joseph Izraelevitz , Trevor Mudge , Ronald Dreslinski , Nishil Talati

Many commonly studied species now have more than one chromosome-scale genome assembly, revealing a large amount of genetic diversity previously missed by approaches that map short reads to a single reference. However, many species still…

Populations and Evolution · Quantitative Biology 2024-09-19 Miles D. Roberts , Olivia Davis , Emily B. Josephs , Robert J. Williamson

Genome assembly, the process of reconstructing a long genetic sequence by aligning and merging short fragments, or reads, is known to be NP-hard, either as a version of the shortest common superstring problem or in a Hamiltonian-cycle…

Statistical Mechanics · Physics 2024-03-12 L. A. Fernandez , V. Martin-Mayor , D. Yllanes

The analysis of biological sequencing data has been one of the biggest applications of string algorithms. The approaches used in many such applications are based on the analysis of k-mers, which are short fixed-length strings present in a…

Data Structures and Algorithms · Computer Science 2020-06-15 Rayan Chikhi , Jan Holub , Paul Medvedev

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…

Modern high throughput sequencing technologies like metagenomic sequencing generate millions of sequences which have to be classified based on their taxonomic rank. Modern approaches either apply local alignment and comparison to existing…

Genomics · Quantitative Biology 2023-03-14 Wolfgang Fuhl , Susanne Zabel , Kay Nieselt

Kernel methods are powerful tools in machine learning. They have to be computationally efficient. In this paper, we present a novel Geometric-based approach to compute efficiently the string subsequence kernel (SSK). Our main idea is that…

Machine Learning · Computer Science 2015-03-02 Slimane Bellaouar , Hadda Cherroun , Djelloul Ziadi

Metagenomics characterizes the taxonomic diversity of microbial communities by sequencing DNA directly from an environmental sample. One of the main challenges in metagenomics data analysis is the binning step, where each sequenced read is…

Quantitative Methods · Quantitative Biology 2015-05-27 Kévin Vervier , Pierre Mahé , Maud Tournoud , Jean-Baptiste Veyrieras , Jean-Philippe Vert

Obtaining effective representations of DNA sequences is crucial for genome analysis. Metagenomic binning, for instance, relies on genome representations to cluster complex mixtures of DNA fragments from biological samples with the aim of…

Machine Learning · Computer Science 2024-11-05 Abdulkadir Celikkanat , Andres R. Masegosa , Thomas D. Nielsen

(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

Motivation: Despite significant advances in Third-Generation Sequencing (TGS) technologies, Next-Generation Sequencing (NGS) technologies remain dominant in the current sequencing market. This is due to the lower error rates and richer…

Information Theory · Computer Science 2023-04-04 Jia Wang , Yi Niu , Tianyi Xu , Mingming Ma , Dahua Gao , Guangming Shi

Motivation: A Genomic Dictionary, i.e., the set of the k-mers appearing in a genome, is a fundamental source of genomic information: its collection is the first step in strategic computational methods ranging from assembly to sequence…

Data Structures and Algorithms · Computer Science 2022-12-07 Raffaele Giancarlo , Gennaro Grimaudo

De novo genome assembly, i.e., rebuilding the sequence of an unknown genome from redundant and erroneous short sequences, is a key but computationally intensive step in many genomics pipelines. The exponential growth of genomic data is…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-07-12 Giulia Guidi , Gabriel Raulet , Daniel Rokhsar , Leonid Oliker , Katherine Yelick , Aydin Buluc

Motivation: High throughput DNA sequencing (HTS) technologies generate an excessive number of small DNA segments -- called short reads -- that cause significant computational burden. To analyze the entire genome, each of the billions of…

Genomics · Quantitative Biology 2020-09-29 Mohammed Alser , Hasan Hassan , Hongyi Xin , Oğuz Ergin , Onur Mutlu , Can Alkan

Multiple Set Membership Testing (MSMT) is a well-known problem in a variety of search and query applications. Given a dataset of K different sets and a query q, it aims to find all of the sets containing the query. Trivially, an MSMT…

Data Structures and Algorithms · Computer Science 2020-07-21 Gaurav Gupta , Minghao Yan , Benjamin Coleman , R. A. Leo Elworth , Tharun Medini , Todd Treangen , Anshumali Shrivastava

Mass spectrometry (MS) is essential for proteomics and metabolomics but faces impending challenges in efficiently processing the vast volumes of data. This paper introduces SpecPCM, an in-memory computing (IMC) accelerator designed to…

Hardware Architecture · Computer Science 2024-11-18 Keming Fan , Ashkan Moradifirouzabadi , Xiangjin Wu , Zheyu Li , Flavio Ponzina , Anton Persson , Eric Pop , Tajana Rosing , Mingu Kang

We propose a lightweight data structure for indexing and querying collections of NGS reads data in main memory. The data structure supports the interface proposed in the pioneering work by Philippe et al. for counting and locating $k$-mers…

Data Structures and Algorithms · Computer Science 2017-03-03 Tomasz Kowalski , Szymon Grabowski , Sebastian Deorowicz