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Objectives: The vast and complex nature of human genomic sequencing data presents challenges for effective analysis. This review aims to investigate the application of Natural Language Processing (NLP) techniques, particularly Large…

Genomics · Quantitative Biology 2025-02-28 Shuyan Cheng , Yishu Wei , Yiliang Zhou , Zihan Xu , Drew N Wright , Jinze Liu , Yifan Peng

The utility of DNA sequence substrings (k-mers) in alignment-free phylogenetic classification, including that of bacteria and viruses, is increasingly recognized. However, its biological basis eludes many twenty-first century practitioners.…

Populations and Evolution · Quantitative Biology 2019-04-29 Donald R. Forsdyke

Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call…

Graph neural networks (GNNs) learn to represent nodes by aggregating information from their neighbors. As GNNs increase in depth, their receptive field grows exponentially, leading to high memory costs. Several existing methods address this…

Machine Learning · Computer Science 2025-07-16 Taraneh Younesian , Daniel Daza , Emile van Krieken , Thiviyan Thanapalasingam , Peter Bloem

Sequential pattern mining (SPM) has excellent prospects and application spaces and has been widely used in different fields. The non-overlapping SPM, as one of the data mining techniques, has been used to discover patterns that have…

Databases · Computer Science 2023-04-25 Zefeng Chen , Wensheng Gan , Gengsen Huang , Yan Li , Zhenlian Qi

Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical…

Genomics · Quantitative Biology 2015-06-15 Uma Paila , Brad Chapman , Rory Kirchner , Aaron Quinlan

The Mixup scheme suggests mixing a pair of samples to create an augmented training sample and has gained considerable attention recently for improving the generalizability of neural networks. A straightforward and widely used extension of…

Computer Vision and Pattern Recognition · Computer Science 2021-12-17 Joonhyung Park , June Yong Yang , Jinwoo Shin , Sung Ju Hwang , Eunho Yang

The widely used genetic pleiotropic analysis of multiple phenotypes are often designed for examining the relationship between common variants and a few phenotypes. They are not suited for both high dimensional phenotypes and high…

Machine Learning · Statistics 2015-12-04 Panpan Wang , Mohammad Rahman , Li Jin , Momiao Xiong

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is a gene editing technology that has revolutionized the fields of biology and medicine. However, one of the challenges of using CRISPR is predicting the on-target efficacy…

Machine Learning · Computer Science 2024-03-06 Mohammad Rostami , Amin Ghariyazi , Hamed Dashti , Mohammad Hossein Rohban , Hamid R. Rabiee

Enormous volumes of short reads data from next-generation sequencing (NGS) technologies have posed new challenges to the area of genomic sequence comparison. The multiple sequence alignment approach is hardly applicable to NGS data due to…

Genomics · Quantitative Biology 2020-03-25 Ngoc Hieu Tran , Xin Chen

In this paper, we study the maximum entropy sampling problem (MESP) and its variants. MESP seeks to identify a small subset of variables that maximizes the determinant of a covariance submatrix, and is a fundamental model in optimal…

Optimization and Control · Mathematics 2026-04-14 Lingqing Shen , Fatma Kılınç-Karzan

Proteomics is the large-scale analysis of the proteins. The common method for identifying proteins and characterising their amino acid sequences is to digest the proteins into peptides, analyse the peptides using mass spectrometry and…

Computational Engineering, Finance, and Science · Computer Science 2019-02-05 Samaneh Azari , Bing Xue , Mengjie Zhang , Lifeng Peng

Motivation: Researchers need a rich trove of genomic datasets that they can leverage to gain a better understanding of the genetic basis of the human genome and identify associations between phenotypes and specific parts of DNA. However,…

Cryptography and Security · Computer Science 2021-06-10 Nour Almadhoun Alserr , Gulce Kale , Onur Mutlu , Oznur Tastan , Erman Ayday

Large Language Models (LLMs) have demonstrated remarkable capabilities in modeling sequential textual data and generalizing across diverse tasks. However, adapting LLMs to effectively handle structural data, such as knowledge graphs or web…

Computation and Language · Computer Science 2025-11-12 Jiarui Feng , Donghong Cai , Yixin Chen , Muhan Zhang

Motivated by the growing availability of personal genomics services, we study an information-theoretic privacy problem that arises when sharing genomic data: a user wants to share his or her genome sequence while keeping the genotypes at…

Information Theory · Computer Science 2021-10-18 Fangwei Ye , Hyunghoon Cho , Salim El Rouayheb

Tandem mass spectrometry (MS/MS) is a high-throughput technology used toidentify the proteins in a complex biological sample, such as a drop of blood. A collection of spectra is generated at the output of the process, each spectrum of which…

Quantitative Methods · Quantitative Biology 2019-09-06 John T. Halloran , David M. Rocke

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

Genomics · Quantitative Biology 2026-03-10 Muhammad Muneeb , David B. Ascher , YooChan Myung

Diffusion models have demonstrated remarkable success in high-fidelity image synthesis and prompt-guided generative modeling. However, ensuring adequate diversity in generated samples of prompt-guided diffusion models remains a challenge,…

Computer Vision and Pattern Recognition · Computer Science 2025-10-31 Mohammad Jalali , Haoyu Lei , Amin Gohari , Farzan Farnia

Spectral independence is a recently-developed framework for obtaining sharp bounds on the convergence time of the classical Glauber dynamics. This new framework has yielded optimal $O(n \log n)$ sampling algorithms on bounded-degree graphs…

Data Structures and Algorithms · Computer Science 2023-10-16 Ivona Bezáková , Andreas Galanis , Leslie Ann Goldberg , Daniel Štefankovič

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