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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

Motivation: Next-generation sequencing tools have enabled producing of huge amount of genomic information at low cost. Unfortunately, presence of sequencing errors in such data affects quality of downstream analyzes. Accuracy of them can be…

Genomics · Quantitative Biology 2017-03-03 Maciej Dlugosz , Sebastian Deorowicz

Summary: With the rapid development of long-read sequencing technologies, the era of individual complete genomes is approaching. We have developed wgatools, a cross-platform, ultrafast toolkit that supports a range of whole genome alignment…

Genomics · Quantitative Biology 2025-04-01 Wenjie Wei , Songtao Gui , Jian Yang , Erik Garrison , Jianbing Yan , Hai-Jun Liu

Motivation: Single Molecule Real-Time (SMRT) sequencing technology and Oxford Nanopore technologies (ONT) produce reads over 10kbp in length, which have enabled high-quality genome assembly at an affordable cost. However, at present, long…

Genomics · Quantitative Biology 2017-08-07 Heng Li

Motivation: Illumina DNA sequencing is now the predominant source of raw genomic data, and data volumes are growing rapidly. Bioinformatic analysis pipelines are having trouble keeping pace. A common bottleneck in such pipelines is the…

Genomics · Quantitative Biology 2014-09-09 Gregory G. Faust , Ira M. Hall

Summary: Mapping ancient DNA to a reference genome is challenging as it involves numerous steps, is time-consuming and has to be repeated within a study to assess the quality of extracts and libraries; as a result, the mapping needs to be…

This paper introduces a high-throughput software tool framework called {\it sam2bam} that enables users to significantly speedup pre-processing for next-generation sequencing data. The sam2bam is especially efficient on single-node…

Genomics · Quantitative Biology 2017-02-08 Takeshi Ogasawara , Yinhe Cheng , Tzy-Hwa Kathy Tzeng

Storing and archiving data produced by next-generation sequencing (NGS) is a huge burden for research institutions. Reference-based compression algorithms are effective in dealing with these data. Our work focuses on compressing FASTQ…

Information Theory · Computer Science 2024-04-04 Yuanjian Liu , Huihao Luo , Zhijun Han , Yao Hu , Yehui Yang , Kyle Chard , Sheng Di , Ian Foster , Jiesheng Wu

Large-scale genomic workflows used in precision medicine can process datasets spanning tens to hundreds of gigabytes per sample, leading to high memory spikes, intensive disk I/O, and task failures due to out-of-memory errors. Simple static…

Distributed, Parallel, and Cluster Computing · Computer Science 2025-11-21 Daniel Mas Montserrat , Ray Verma , Míriam Barrabés , Francisco M. de la Vega , Carlos D. Bustamante , Alexander G. Ioannidis

Genome analysis has revolutionized fields such as personalized medicine and forensics. Modern sequencing machines generate vast amounts of fragmented strings of genome data called reads. The alignment of these reads into a complete DNA…

Hardware Architecture · Computer Science 2024-11-22 Rotem Ben-Hur , Orian Leitersdorf , Ronny Ronen , Lidor Goldshmidt , Idan Magram , Lior Kaplun , Leonid Yavitz , Shahar Kvatinsky

Recent emergence of next-generation DNA sequencing technology has enabled acquisition of genetic information at unprecedented scales. In order to determine the genetic blueprint of an organism, sequencing platforms typically employ…

Genomics · Quantitative Biology 2015-06-19 Xiaohu Shen , Manohar Shamaiah , Haris Vikalo

Genome sequence analysis is a powerful tool in medical and scientific research. Considering the inevitable sequencing errors and genetic variations, approximate string matching (ASM) has been adopted in practice for genome sequencing.…

Genome assembly using high throughput data with short reads, arguably, remains an unresolvable task in repetitive genomes, since when the length of a repeat exceeds the read length, it becomes difficult to unambiguously connect the flanking…

Quantitative Methods · Quantitative Biology 2013-07-31 Viraj Deshpande , Eric DK Fung , Son Pham , Vineet Bafna

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

We propose FastMap, a new global structure from motion method focused on speed and simplicity. Previous methods like COLMAP and GLOMAP are able to estimate high-precision camera poses, but suffer from poor scalability when the number of…

Computer Vision and Pattern Recognition · Computer Science 2025-08-22 Jiahao Li , Haochen Wang , Muhammad Zubair Irshad , Igor Vasiljevic , Matthew R. Walter , Vitor Campagnolo Guizilini , Greg Shakhnarovich

Machine- and deep-learning approaches for biological sequences depend critically on transforming raw DNA, RNA, and protein FASTA files into informative numerical representations. However, this process is often fragmented across multiple…

Genomics · Quantitative Biology 2025-12-01 Hamid Ismail , Marwan Bikdash

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

Purpose: In many clinical MRI scenarios, existing imaging information can be used to significantly shorten acquisition time or to improve Signal to Noise Ratio (SNR). In this paper the authors present a framework for fast MRI by exploiting…

Medical Physics · Physics 2017-08-28 Lior Weizman , Yonina C. Eldar , Dafna Ben-Basaht

DNA sequencing technology has advanced to a point where storage is becoming the central bottleneck in the acquisition and mining of more data. Large amounts of data are vital for genomics research, and generic compression tools, while…

Information Theory · Computer Science 2016-11-15 Bobbie Chern , Idoia Ochoa , Alexandros Manolakos , Albert No , Kartik Venkat , Tsachy Weissman

Neural document ranking approaches, specifically transformer models, have achieved impressive gains in ranking performance. However, query processing using such over-parameterized models is both resource and time intensive. In this paper,…

Information Retrieval · Computer Science 2022-04-05 Jurek Leonhardt , Koustav Rudra , Megha Khosla , Abhijit Anand , Avishek Anand