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Gene-disease associations are fundamental for understanding disease etiology and developing effective interventions and treatments. Identifying genes not yet associated with a disease due to a lack of studies is a challenging task in which…

Machine Learning · Computer Science 2023-03-08 Paola Stolfi , Andrea Mastropietro , Giuseppe Pasculli , Paolo Tieri , Davide Vergni

Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional…

Methodology · Statistics 2010-10-26 Sebastian Zöllner , Tanya M. Teslovich

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

Genomics · Quantitative Biology 2013-03-19 Heng Li

The ability to quickly and accurately identify microbial species in a sample, known as metagenomic profiling, is critical across various fields, from healthcare to environmental science. This paper introduces a novel method to profile…

Genomics · Quantitative Biology 2025-04-10 Riselda Kodra , Hadjer Benmeziane , Irem Boybat , William Andrew Simon

The availability of large-scale annotated image datasets and recent advances in supervised deep learning methods enable the end-to-end derivation of representative image features that can impact a variety of image analysis problems. Such…

Computer Vision and Pattern Recognition · Computer Science 2020-06-23 Euijoon Ahn , Jinman Kim , Ashnil Kumar , Michael Fulham , Dagan Feng

Datasets with missing values are very common on industry applications, and they can have a negative impact on machine learning models. Recent studies introduced solutions to the problem of imputing missing values based on deep generative…

Machine Learning · Computer Science 2019-02-28 Ramiro D. Camino , Christian A. Hammerschmidt , Radu State

Sequence classification has numerous applications in various fields. Despite extensive studies in the last decades, many challenges still exist, particularly in pattern-based methods. Existing pattern-based methods measure the…

Machine Learning · Computer Science 2023-10-23 Junjie Dong , Mudi Jiang , Lianyu Hu , Zengyou He

We propose Gumbel Noise Score Matching (GNSM), a novel unsupervised method to detect anomalies in categorical data. GNSM accomplishes this by estimating the scores, i.e. the gradients of log likelihoods w.r.t.~inputs, of continuously…

Machine Learning · Computer Science 2023-04-07 Ahsan Mahmood , Junier Oliva , Martin Styner

Sequential pattern mining (SPM) is an important technique of pattern mining, which has many applications in reality. Although many efficient sequential pattern mining algorithms have been proposed, there are few studies can focus on target…

Databases · Computer Science 2022-03-01 Gengsen Huang , Wensheng Gan , Philip S. Yu

Data mining is the task of discovering interesting patterns from large amounts of data. There are many data mining tasks, such as classification, clustering, association rule mining, and sequential pattern mining. Sequential pattern mining…

Databases · Computer Science 2010-02-08 Mahdi Esmaeili , Fazekas Gabor

Sequence data, such as DNA, RNA, and protein sequences, exhibit intricate, multi-scale structures that pose significant challenges for conventional analysis methods, particularly those relying on alignment or purely statistical…

Genomics · Quantitative Biology 2025-10-22 Jian Liu , Li Shen , Mushal Zia , Guo-Wei Wei

Non-coding RNA (ncRNA) are RNA sequences which don't code for a gene but instead carry important biological functions. The task of ncRNA classification consists in classifying a given ncRNA sequence into its family. While it has been shown…

Genomics · Quantitative Biology 2019-05-17 Emanuele Rossi , Federico Monti , Michael Bronstein , Pietro Liò

GC-content, the ratio of guanine and cytosine bases in an entire nucleotide sequence, and palindromic sequences are unique for every organism due to genomic evolution. The goals of our research was to establish a correlation between…

Genomics · Quantitative Biology 2013-02-26 Andrew Ninh

Associative memories are structures that store data patterns and retrieve them given partial inputs. Sparse Clustered Networks (SCNs) are recently-introduced binary-weighted associative memories that significantly improve the storage and…

Neural and Evolutionary Computing · Computer Science 2016-11-18 Hooman Jarollahi , Naoya Onizawa , Takahiro Hanyu , Warren J. Gross

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

The causal revolution has stimulated interest in understanding complex relationships in various fields. Most of the existing methods aim to discover causal relationships among all variables within a complex large-scale graph. However, in…

Machine Learning · Computer Science 2023-11-02 Hengrui Cai , Yixin Wang , Michael Jordan , Rui Song

Gaussian Processes (GPs) provide a powerful framework for making predictions and understanding uncertainty for classification with kernels and Bayesian non-parametric learning. Building such models typically requires strong prior knowledge…

Machine Learning · Computer Science 2024-08-16 Changze Huang , Di Wang

Graph Convolutional Network (GCN) has experienced great success in graph analysis tasks. It works by smoothing the node features across the graph. The current GCN models overwhelmingly assume that the node feature information is complete.…

Machine Learning · Computer Science 2020-12-08 Hibiki Taguchi , Xin Liu , Tsuyoshi Murata

DNA sequencing is the physical/biochemical process of identifying the location of the four bases (Adenine, Guanine, Cytosine, Thymine) in a DNA strand. As semiconductor technology revolutionized computing, modern DNA sequencing technology…

Distributed, Parallel, and Cluster Computing · Computer Science 2020-05-06 S. Karen Khatamifard , Zamshed Chowdhury , Nakul Pande , Meisam Razaviyayn , Chris Kim , Ulya R. Karpuzcu

Learning binary classifiers from positive and unlabeled data (PUL) is vital in many real-world applications, especially when verifying negative examples is difficult. Despite the impressive empirical performance of recent PUL methods,…

Machine Learning · Computer Science 2024-10-14 Xinrui Wang , Wenhai Wan , Chuanxin Geng , Shaoyuan LI , Songcan Chen