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Advances in data collecting technologies in genomics have significantly increased the need for tools designed to study the genetic basis of many diseases. Effective statistical methods should excel in both prediction accuracy and biomarker…

Methodology · Statistics 2025-11-13 Anthony-Alexander Christidis , Stefan Van Aelst , Ruben Zamar

With small-scale quantum processors transitioning from experimental physics labs to industrial products, these processors allow us to efficiently compute important algorithms in various fields. In this paper, we propose a quantum algorithm…

Quantum Physics · Physics 2020-05-22 Aritra Sarkar , Zaid Al-Ars , Carmen G. Almudever , Koen Bertels

In this work we seek clusters of genomic words in human DNA by studying their inter-word lag distributions. Due to the particularly spiked nature of these histograms, a clustering procedure is proposed that first decomposes each…

Applications · Statistics 2021-01-13 Ana Helena Tavares , Jakob Raymaekers , Peter J. Rousseeuw , Paula Brito , Vera Afreixo

During the course of evolution, an organism's genome can undergo changes that affect the large-scale structure of the genome. These changes include gene gain, loss, duplication, chromosome fusion, fission, and rearrangement. When gene gain…

Genomics · Quantitative Biology 2012-07-31 Birte Kehr , Knut Reinert , Aaron E. Darling

In the computational-mechanics structural analysis of one-dimensional cellular automata the following automata-theoretic analogue of the \emph{change-point problem} from time series analysis arises: \emph{Given a string $\sigma$ and a…

Computer Vision and Pattern Recognition · Computer Science 2016-08-31 Carl S. McTague , James P. Crutchfield

Frameshift translation is an important phenomenon that contributes to the appearance of novel Coding DNA Sequences (CDS) and functions in gene evolution, by allowing alternative amino acid translations of genes coding regions. Frameshift…

Data Structures and Algorithms · Computer Science 2017-04-14 Safa Jammali , Esaie Kuitche , Ayoub Rachati , François Bélanger , Michelle Scott , Aïda Ouangraoua

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

Genomic signal processing has been used successfully in bioinformatics to analyze biomolecular sequences and gain varied insights into DNA structure, gene organization, protein binding, sequence evolution, etc. But challenges remain in…

Genomics · Quantitative Biology 2022-11-04 Saish Jaiswal , Shreya Nema , Hema A Murthy , Manikandan Narayanan

We outline a procedure for jointly sampling substitution matrices and multiple sequence alignments, according to an approximate posterior distribution, using an MCMC-based algorithm. This procedure provides an efficient and simple method by…

Quantitative Methods · Quantitative Biology 2015-01-22 Joseph L. Herman , Adrienn Szabó , Instván Miklós , Jotun Hein

This paper presents a novel DNA sequences alignment method based on inverted index. Now most large scale information retrieval system are all use inverted index as the basic data structure. But its application in DNA sequence alignment is…

Genomics · Quantitative Biology 2013-07-02 Wang Liang , Zhao KaiYong

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

When analyzing the genome, researchers have discovered that proteins bind to DNA based on certain patterns of the DNA sequence known as "motifs". However, it is difficult to manually construct motifs due to their complexity. Recently,…

Machine Learning · Computer Science 2017-02-23 Jack Lanchantin , Ritambhara Singh , Yanjun Qi

Anchors (Ribeiro et al., 2018) is a post-hoc, rule-based interpretability method. For text data, it proposes to explain a decision by highlighting a small set of words (an anchor) such that the model to explain has similar outputs when they…

Machine Learning · Statistics 2025-10-22 Gianluigi Lopardo , Frederic Precioso , Damien Garreau

Facial landmark localization aims to detect the predefined points of human faces, and the topic has been rapidly improved with the recent development of neural network based methods. However, it remains a challenging task when dealing with…

Computer Vision and Pattern Recognition · Computer Science 2021-02-09 Zixuan Xu , Banghuai Li , Miao Geng , Ye Yuan

In many real-world database systems, a large fraction of the data is represented by strings: sequences of letters over some alphabet. This is because strings can easily encode data arising from different sources. It is often crucial to…

Data Structures and Algorithms · Computer Science 2024-07-17 Lorraine A. K. Ayad , Grigorios Loukides , Solon P. Pissis

A new set of DNA base-nucleic acid codes and their hypercomplex number representation have been introduced for taking the probability of each nucleotide into full account. A new scoring system has been proposed to suit the hypercomplex…

Other Quantitative Biology · Quantitative Biology 2014-03-12 Jian-Jun Shu , Li Shan Ouw

Summary: BWA-MEM is a new alignment algorithm for aligning sequence reads or long query sequences against a large reference genome such as human. It automatically chooses between local and end-to-end alignments, supports paired-end reads…

Genomics · Quantitative Biology 2013-05-28 Heng Li

This paper describes a new alignment algorithm for sequences that can be used for determination of deletions and substitutions. It provides several solutions out of which the best one can be chosen on the basis of minimization of gaps or…

Information Theory · Computer Science 2012-11-01 Sandeep Hosangadi , Subhash Kak

Advances in DNA sequencing mean databases of thousands of human genomes will soon be commonplace. In this paper we introduce a simple technique for reducing the size of conventional indexes on such highly repetitive texts. Given upper…

Data Structures and Algorithms · Computer Science 2015-06-16 H. Ferrada , T. Gagie , T. Hirvola , S. J. Puglisi

Ranking functions in information retrieval are often used in search engines to recommend the relevant answers to the query. This paper makes use of this notion of information retrieval and applies onto the problem domain of cognate…

Information Retrieval · Computer Science 2018-11-21 Pranav A