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Pairwise alignment of DNA sequencing data is a ubiquitous task in bioinformatics and typically represents a heavy computational burden. State-of-the-art approaches to speed up this task use hashing to identify short segments (k-mers) that…

Machine Learning · Computer Science 2021-02-16 Govinda M. Kamath , Tavor Z. Baharav , Ilan Shomorony

In order to avoid the reference bias introduced by mapping reads to a reference genome, bioinformaticians are investigating reference-free methods for analyzing sequenced genomes. With large projects sequencing thousands of individuals,…

Data Structures and Algorithms · Computer Science 2016-01-15 Jouni Sirén

Summary: BGT is a compact format, a fast command line tool and a simple web application for efficient and convenient query of whole-genome genotypes and frequencies across tens to hundreds of thousands of samples. On real data, it encodes…

Genomics · Quantitative Biology 2017-08-07 Heng Li

Sequence alignment data is often ordered by coordinate (id of the reference sequence plus position on the sequence where the fragment was mapped) when stored in BAM files, as this simplifies the extraction of variants between the mapped…

Genomics · Quantitative Biology 2014-06-24 German Tischler , Steven Leonard

Genetic algorithm (GA) is typically used to solve nonlinear model predictive control's optimization problem. However, the size of the search space in which the GA searches for the optimal control inputs is crucial for its applicability to…

Optimization and Control · Mathematics 2025-01-22 Eslam Mostafa , Hussein A. Aly , Ahmed Elliethy

Mantaci et al. [TCS 2007] defined the eBWT to extend the definition of the BWT to a collection of strings, however, since this introduction, it has been used more generally to describe any BWT of a collection of strings and the fundamental…

Data Structures and Algorithms · Computer Science 2021-06-22 Christina Boucher , Davide Cenzato , Zsuzsanna Lipták , Massimiliano Rossi , Marinella Sciortino

Approximate Bayesian Computation has been successfully used in population genetics to bypass the calculation of the likelihood. These methods provide accurate estimates of the posterior distribution by comparing the observed dataset to a…

In genomics, pattern matching against a sequence of nucleotides plays a pivotal role for DNA sequence alignment and comparing genomes. This helps tackling some diseases, such as cancer in humans. The complexity of searching biological…

Quantitative Methods · Quantitative Biology 2017-10-04 Fereshte Mozafari , Hossein Babashah , Somayyeh Koohi , Zahra Kavehvash

Next-generation sequencing (NGS) technologies have enabled affordable sequencing of billions of short DNA fragments at high throughput, paving the way for population-scale genomics. Genomics data analytics at this scale requires overcoming…

Databases · Computer Science 2019-10-11 Darryl Ho , Jialin Ding , Sanchit Misra , Nesime Tatbul , Vikram Nathan , Vasimuddin Md , Tim Kraska

Reference-guided DNA sequencing and alignment is an important process in computational molecular biology. The amount of DNA data grows very fast, and many new genomes are waiting to be sequenced while millions of private genomes need to be…

Motivation: Illumina DNA sequencing is now the predominant source of raw genomic data, and data volumes are growing rapidly. Bioinformatic analysis pipelines are having trouble keeping pace. A common bottleneck in such pipelines is the…

Genomics · Quantitative Biology 2014-09-09 Gregory G. Faust , Ira M. Hall

Deep neural networks are starting to show their worth in critical applications such as assisted cancer diagnosis. However, for their outputs to get accepted in practice, the results they provide should be explainable in a way easily…

Computer Vision and Pattern Recognition · Computer Science 2025-12-22 Martin Krebs , Jan Obdržálek , Vít Musil , Tomáš Brázdil

Molecular discovery has brought great benefits to the chemical industry. Various molecule design techniques are developed to identify molecules with desirable properties. Traditional optimization methods, such as genetic algorithms,…

Biomolecules · Quantitative Biology 2025-11-05 Chris Zhuang , Debadyuti Mukherjee , Yingzhou Lu , Tianfan Fu , Ruqi Zhang

Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and…

Applications · Statistics 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

The Dynamic Time Warping (DTW) is a popular similarity measure between time series. The DTW fails to satisfy the triangle inequality and its computation requires quadratic time. Hence, to find closest neighbors quickly, we use bounding…

Databases · Computer Science 2012-01-16 Daniel Lemire

New powerful tools for tackling life science problems have been created by recent advances in machine learning. The purpose of the paper is to discuss the potential advantages of gene recommendation performed by artificial intelligence…

Quantitative Methods · Quantitative Biology 2023-03-23 Daniele Brambilla , Davide Maria Giacomini , Luca Muscarnera , Andrea Mazzoleni

The Burrows-Wheeler Transform (BWT) is often taught in undergraduate courses on algorithmic bioinformatics, because it underlies the FM-index and thus important tools such as Bowtie and BWA. Its admirers consider the BWT a thing of beauty…

Data Structures and Algorithms · Computer Science 2022-08-23 Travis Gagie , Giovanni Manzini , Marinella Sciortino

The rapidly changing landscape of sequencing technologies brings new opportunities to genomics research. Longer sequence reads and higher sequence throughput coupled with ever-improving base accuracy and decreasing per-base cost is now…

Genomics · Quantitative Biology 2022-09-20 René L. Warren

We describe a grammar for DNA sequencing reads from which we can compute the BWT directly. Our motivation is to perform in succinct space genomic analyses that require complex string queries not yet supported by repetition-based…

Data Structures and Algorithms · Computer Science 2020-11-17 Diego Díaz-Domínguez , Gonzalo Navarro

Calculating the similarities between a pair of genomic sequences is one of the most fundamental computational steps in genomic analysis. This step -- called sequence alignment -- is the computational bottleneck because: (1) it is…

Genomics · Quantitative Biology 2019-10-10 Mohammed H K Alser