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Background: Advances in high throughput sequencing technologies provide a huge number of genomes to be analyzed. Thus, computational methods play a crucial role in analyzing and extracting knowledge from the data generated. Investigating…

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

A genome read data set can be quickly and efficiently remapped from one reference to another similar reference (e.g., between two reference versions or two similar species) using a variety of tools, e.g., the commonly-used CrossMap tool.…

Genomics · Quantitative Biology 2023-11-21 Jeremie S. Kim , Can Firtina , Meryem Banu Cavlak , Damla Senol Cali , Can Alkan , Onur Mutlu

With the increasing affordability and accessibility of genome sequencing data, de novo genome assembly is an important first step to a wide variety of downstream studies and analyses. Therefore, bioinformatics tools that enable the…

Genomics · Quantitative Biology 2023-06-09 Lauren Coombe , René L. Warren , Johnathan Wong , Vladimir Nikolic , Inanc Birol

Background: Connectivity mapping is a process to recognize novel pharmacological and toxicological properties in small molecules by comparing their gene expression signatures with others in a database. A simple and robust method for…

Quantitative Methods · Quantitative Biology 2009-08-06 Shu-Dong Zhang , Timothy W. Gant

Processing high-throughput DNA sequencing data of individuals or populations requires stringing together independent software tools with many parameters, often leading to non-reproducible pipelines and datasets. We developed grenepipe to…

Genomics · Quantitative Biology 2025-01-09 Lucas Czech , Moises Exposito-Alonso

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…

Advancing research in fields such as Simultaneous Localization and Mapping (SLAM) and autonomous navigation critically depends on the availability of reliable and reproducible multimodal datasets. While several influential datasets have…

Metagenome assembly is the process of transforming a set of short, overlapping, and potentially erroneous DNA segments from environmental samples into the accurate representation of the underlying microbiomes's genomes. State-of-the-art…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-09-20 Evangelos Georganas , Rob Egan , Steven Hofmeyr , Eugene Goltsman , Bill Arndt , Andrew Tritt , Aydin Buluc , Leonid Oliker , Katherine Yelick

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

We present the Scalable Nucleotide Alignment Program (SNAP), a new short and long read aligner that is both more accurate (i.e., aligns more reads with fewer errors) and 10-100x faster than state-of-the-art tools such as BWA. Unlike recent…

Data Structures and Algorithms · Computer Science 2011-11-24 Matei Zaharia , William J. Bolosky , Kristal Curtis , Armando Fox , David Patterson , Scott Shenker , Ion Stoica , Richard M. Karp , Taylor Sittler

RNA sequencing techniques, like bulk RNA-seq and Single Cell (sc) RNA-seq, are critical tools for the biologist looking to analyze the genetic activity/transcriptome of a tissue or cell during an experimental procedure. Platforms like…

Genomics · Quantitative Biology 2024-07-08 Devam Mondal , Atharva Inamdar

Motivation: Transcriptome sequencing has long been the favored method for quickly and inexpensively obtaining the sequences for a large number of genes from an organism with no reference genome. With the rapidly increasing throughputs and…

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

This paper introduces SENMap, a mapping and synthesis tool for scalable, energy-efficient neuromorphic computing architecture frameworks. SENECA is a flexible architectural design optimized for executing edge AI SNN/ANN inference…

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

Applications · Statistics 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

Motivation: Quality control of genomic data is an essential but complicated multi-step procedure, often requiring separate installation and expert familiarity with a combination of disparate bioinformatics tools. Results: To provide an…

Genomics · Quantitative Biology 2021-05-06 Christina Vasilopoulou , Benjamin Wingfield , Andrew P. Morris , William Duddy

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

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

DNA sequence classification is a fundamental task in computational biology with vast implications for applications such as disease prevention and drug design. Therefore, fast high-quality sequence classifiers are significantly important.…

Machine Learning · Computer Science 2023-11-07 Marcel Khalifa , Barak Hoffer , Orian Leitersdorf , Robert Hanhan , Ben Perach , Leonid Yavits , Shahar Kvatinsky
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