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Motivation: Recent advances in sequencing technologies promise ultra-long reads of $\sim$100 kilo bases (kb) in average, full-length mRNA or cDNA reads in high throughput and genomic contigs over 100 mega bases (Mb) in length. Existing…

Genomics · Quantitative Biology 2018-09-17 Heng Li

De novo peptide sequencing is a critical task in proteomics. However, the performance of current deep learning-based methods is limited by the inherent complexity of mass spectrometry data and the heterogeneous distribution of noise…

Machine Learning · Computer Science 2025-06-02 Zijie Qiu , Jiaqi Wei , Xiang Zhang , Sheng Xu , Kai Zou , Zhi Jin , Zhiqiang Gao , Nanqing Dong , Siqi Sun

Background: Haplotypes, the ordered lists of single nucleotide variations that distinguish chromosomal sequences from their homologous pairs, may reveal an individual's susceptibility to hereditary and complex diseases and affect how our…

Social and Information Networks · Computer Science 2019-11-28 Abishek Sankararaman , Haris Vikalo , François Baccelli

Genotype imputation enhances genetic data by predicting missing SNPs using reference haplotype information. Traditional methods leverage linkage disequilibrium (LD) to infer untyped SNP genotypes, relying on the similarity of LD structures…

Genomics · Quantitative Biology 2024-07-15 Aaron Ge , Jeya Balasubramanian , Xueyao Wu , Peter Kraft , Jonas S. Almeida

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

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

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

Next-generation sequencing technologies generate millions of short sequence reads, which are usually aligned to a reference genome. In many applications, the key information required for downstream analysis is the number of reads mapping to…

Genomics · Quantitative Biology 2016-07-26 Yang Liao , Gordon K Smyth , Wei Shi

In an era where big and high-dimensional data is readily available, data scientists are inevitably faced with the challenge of reducing this data for expensive downstream computation or analysis. To this end, we present here a new method…

Methodology · Statistics 2018-06-05 Simon Mak , V. Roshan Joseph

Humans possess an innate ability to group objects by similarity, a cognitive mechanism that clustering algorithms aim to emulate. Recent advances in community detection have enabled the discovery of configurations -- valid hierarchical…

Machine Learning · Computer Science 2025-10-23 Juntang Wang , Hao Wu , Runkun Guo , Yihan Wang , Dongmian Zou , Shixin Xu

Feature selection is a critical task in machine learning and statistics. However, existing feature selection methods either (i) rely on parametric methods such as linear or generalized linear models, (ii) lack theoretical false discovery…

Machine Learning · Statistics 2025-07-18 Omar Melikechi , David B. Dunson , Jeffrey W. Miller

Sequential pattern mining (SPM) with gap constraints (or repetitive SPM or tandem repeat discovery in bioinformatics) can find frequent repetitive subsequences satisfying gap constraints, which are called positive sequential patterns with…

Databases · Computer Science 2025-02-11 Yan Li , Zhulin Wang , Jing Liu , Lei Guo , Philippe Fournier-Viger , Youxi Wu , Xindong Wu

There are many instances in genetics in which we wish to determine whether two candidate populations are distinguishable on the basis of their genetic structure. Examples include populations which are geographically separated, case--control…

Quantitative Methods · Quantitative Biology 2015-05-20 M. Bridges , E. A. Heron , C. O'Dushlaine , R. Segurado , The International Schizophrenia Consortium , D. Morris , A. Corvin , M. Gill , C. Pinto

Metagenomics is the study of environments through genetic sampling of their microbiota. Metagenomic studies produce large datasets that are estimated to grow at a faster rate than the available computational capacity. A key step in the…

Distributed, Parallel, and Cluster Computing · Computer Science 2013-10-04 Freddie Sunarso , Srikumar Venugopal , Federico Lauro

Protein function does not solely depend on structure but often relies on dynamical transitions between distinct conformations. Despite this fact, our ability to characterize or predict protein dynamics is substantially less developed…

Statistical Mechanics · Physics 2026-05-08 Michael A. Sauer , Souvik Mondal , Brandon Neff , Sthitadhi Maiti , Matthias Heyden

Identifying similar protein sequences is a core step in many computational biology pipelines such as detection of homologous protein sequences, generation of similarity protein graphs for downstream analysis, functional annotation and gene…

Distributed, Parallel, and Cluster Computing · Computer Science 2020-10-01 Oguz Selvitopi , Saliya Ekanayake , Giulia Guidi , Georgios Pavlopoulos , Ariful Azad , Aydin Buluc

Population-based memetic algorithms have been successfully applied to solve many difficult combinatorial problems. Often, a population of fixed size was used in such algorithms to record some best solutions sampled during the search.…

Neural and Evolutionary Computing · Computer Science 2019-09-20 Yangming Zhou , Jin-Kao Hao , Zhang-Hua Fu , Zhe Wang , Xiangjing Lai

Group testing enables the identification of a small subset of defective items within a larger population by performing tests on pools of items rather than on each item individually. Over the years, it has not only attracted attention from…

Information Theory · Computer Science 2026-01-13 Manuel Franco-Vivo

The de novo assembly of large, complex genomes is a significant challenge with currently available DNA sequencing technology. While many de novo assembly software packages are available, comparatively little attention has been paid to…

Genomics · Quantitative Biology 2013-07-31 Jared T. Simpson

Although face recognition has been improved much as the development of Deep Neural Networks, SIPP(Single Image Per Person) problem in face recognition has not been better solved, especially in practical applications where searching over…

Computer Vision and Pattern Recognition · Computer Science 2018-02-28 Xihua Li