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The detection of rare variants is important for understanding the genetic heterogeneity in mixed samples. Recently, next-generation sequencing (NGS) technologies have enabled the identification of single nucleotide variants (SNVs) in mixed…

Genomics · Quantitative Biology 2016-04-25 Fan Zhang , Patrick Flaherty

The computational problem of inferring the full haplotype of a cell starting from read sequencing data is known as haplotype assembly, and consists in assigning all heterozygous Single Nucleotide Polymorphisms (SNPs) to exactly one of the…

De novo genome assembly is the process of stitching short DNA sequences to generate longer DNA sequences, without using any reference sequence for alignment. It enables high-throughput genome sequencing and thus accelerates the discovery of…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-01-16 Da Yan , Hongzhi Chen , James Cheng , Zhenkun Cai , Bin Shao

There are currently plenty of programs available for mapping short sequences (reads) to a genome. Most of them, however, including such popular and actively developed programs as Bowtie, BWA, TopHat and many others, are based on…

Genomics · Quantitative Biology 2019-08-06 Igor Seledtsov , Jaroslav Efremov , Vladimir Molodtsov , Victor Solovyev

Insertion Sequences (ISs) are small DNA segments that have the ability of moving themselves into genomes. These types of mobile genetic elements (MGEs) seem to play an essential role in genomes rearrangements and evolution of prokaryotic…

Genomics · Quantitative Biology 2017-06-27 Huda Al-Nayyef , Christophe Guyeux , Jacques M. Bahi

As gravitational-wave catalogs grow, they will become increasingly computationally expensive to analyze in their entirety, especially when inferring astrophysical source populations with high-dimensional, flexible models. Bayesian…

Instrumentation and Methods for Astrophysics · Physics 2026-02-25 Noah E. Wolfe , Matthew Mould , John Veitch , Salvatore Vitale

Metagenomic binning is an essential task in analyzing metagenomic sequence datasets. To analyze structure or function of microbial communities from environmental samples, metagenomic sequence fragments are assigned to their taxonomic…

Quantitative Methods · Quantitative Biology 2016-04-12 Yunan Luo , Jianyang Zeng , Bonnie Berger , Jian Peng

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

Nanopore sequencing is a widely-used high-throughput genome sequencing technology that can sequence long fragments of a genome into raw electrical signals at low cost. Nanopore sequencing requires two computationally-costly processing steps…

Complete genome sequences contain valuable information about natural selection, but extracting this information for short, widely scattered noncoding elements remains a challenging problem. Here we introduce a new computational method for…

Genomics · Quantitative Biology 2015-03-19 Ilan Gronau , Leonardo Arbiza , Jaaved Mohammed , Adam Siepel

Large-scale modern data often involves estimation and testing for high-dimensional unknown parameters. It is desirable to identify the sparse signals, ``the needles in the haystack'', with accuracy and false discovery control. However, the…

Machine Learning · Computer Science 2021-11-08 Junhui Cai , Xu Han , Ya'acov Ritov , Linda Zhao

We propose a frame-based representation of k-mers for detecting sequencing errors and rare variants in next generation sequencing data obtained from populations of closely related genomes. Frames are sets of non-orthogonal basis functions,…

Genomics · Quantitative Biology 2016-04-19 Raunaq Malhotra , Manjari Mukhopadhyay , Mary Poss , Raj Acharya

The exponential growth of DNA sequencing data has outpaced traditional heuristic-based methods, which struggle to scale effectively. Efficient computational approaches are urgently needed to support large-scale similarity search, a…

Second-generation sequencing technologies have replaced array-based technologies and become the default method for genomics and epigenomics analysis. Second-generation sequencing technologies sequence tens of millions of DNA/cDNA fragments…

Methodology · Statistics 2017-02-08 Ping Ma , Nan Zhang , Jianhua Z. Huang , Wenxuan Zhong

The typically rugged nature of molecular free energy landscapes can frustrate efficient sampling of the thermodynamically relevant phase space due to the presence of high free energy barriers. Enhanced sampling techniques can improve phase…

Biomolecules · Quantitative Biology 2023-08-21 Nicholas S. M. Herringer , Siva Dasetty , Diya Gandhi , Junhee Lee , Andrew L. Ferguson

Nonprobability samples have rapidly emerged to address time-sensitive priority topics in a variety of fields. While these data are timely, they are prone to selection bias. To mitigate selection bias, a large number of survey research…

Methodology · Statistics 2025-08-08 Kangrui Liu , Lingxiao Wang , Yan Li

With the routine collection of massive-dimensional predictors in many application areas, screening methods that rapidly identify a small subset of promising predictors have become commonplace. We propose a new MOdular Bayes Screening (MOBS)…

Methodology · Statistics 2017-03-30 Yuhan Chen , David B. Dunson

In this paper we propose a method and discuss its computational implementation as an integrated tool for the analysis of viral genetic diversity on data generated by high-throughput sequencing. Most methods for viral diversity estimation…

Person re identification is a challenging retrieval task that requires matching a person's acquired image across non overlapping camera views. In this paper we propose an effective approach that incorporates both the fine and coarse pose…

Computer Vision and Pattern Recognition · Computer Science 2018-04-03 M. Saquib Sarfraz , Arne Schumann , Andreas Eberle , Rainer Stiefelhagen

Several modern genomic technologies, such as DNA-Methylation arrays, measure spatially registered probes that number in the hundreds of thousands across multiplechromosomes. The measured probes are by themselves less interesting…

Applications · Statistics 2016-11-16 John Nagorski , Genevera I. Allen