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DNA sequence alignment is an important workload in computational genomics. Reference-guided DNA assembly involves aligning many read sequences against candidate locations in a long reference genome. To reduce the computational load of this…

Hardware Architecture · Computer Science 2024-01-23 Courtney Golden , Dan Ilan , Nicholas Cebry , Christopher Batten

Massively parallel sequencing techniques have revolutionized biological and medical sciences by providing unprecedented insight into the genomes of humans, animals, and microbes. Modern sequencing platforms generate enormous amounts of…

Motivation: Seed location filtering is critical in DNA read mapping, a process where billions of DNA fragments (reads) sampled from a donor are mapped onto a reference genome to identify genomic variants of the donor. State-of-the-art read…

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

Nanopore genome sequencing is the key to enabling personalized medicine, global food security, and virus surveillance. The state-of-the-art base-callers adopt deep neural networks (DNNs) to translate electrical signals generated by nanopore…

Hardware Architecture · Computer Science 2020-08-10 Qian Lou , Sarath Janga , Lei Jiang

DNA read mapping is a computationally expensive bioinformatics task, required for genome assembly and consensus polishing. It requires to find the best-fitting location for each DNA read on a long reference sequence. A novel resistive…

Genomics · Quantitative Biology 2019-01-29 Roman Kaplan , Leonid Yavits , Ran Ginosar

DNA pattern matching is essential for many widely used bioinformatics applications. Disease diagnosis is one of these applications, since analyzing changes in DNA sequences can increase our understanding of possible genetic diseases. The…

Hardware Architecture · Computer Science 2022-06-01 Jinane Bazzi , Jana Sweidan , Mohammed E. Fouda , Rouwaida Kanj , Ahmed M. Eltawil

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

With small-scale quantum processors transitioning from experimental physics labs to industrial products, these processors allow us to efficiently compute important algorithms in various fields. In this paper, we propose a quantum algorithm…

Quantum Physics · Physics 2020-05-22 Aritra Sarkar , Zaid Al-Ars , Carmen G. Almudever , Koen Bertels

Calculating the similarities between a pair of genomic sequences is one of the most fundamental computational steps in genomic analysis. This step -- called sequence alignment -- is the computational bottleneck because: (1) it is…

Genomics · Quantitative Biology 2019-10-10 Mohammed H K Alser

Modern day computing increasingly relies on specialization to satiate growing performance and efficiency requirements. A core challenge in designing such specialized hardware architectures is how to perform mapping space search, i.e.,…

Machine Learning · Computer Science 2021-03-03 Kartik Hegde , Po-An Tsai , Sitao Huang , Vikas Chandra , Angshuman Parashar , Christopher W. Fletcher

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

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

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

We now need more than ever to make genome analysis more intelligent. We need to read, analyze, and interpret our genomes not only quickly, but also accurately and efficiently enough to scale the analysis to population level. There currently…

Genome sequence analysis, which examines the DNA sequences of organisms, drives advances in many critical medical and biotechnological fields. Given its importance and the exponentially growing volumes of genomic sequence data, there are…

We improve on GenASM, a recent algorithm for genomic sequence alignment, by significantly reducing its memory footprint and bandwidth requirement. Our algorithmic improvements reduce the memory footprint by 24$\times$ and the number of…

Hardware Architecture · Computer Science 2022-03-30 Joël Lindegger , Damla Senol Cali , Mohammed Alser , Juan Gómez-Luna , Onur Mutlu

This paper presents an accurate short-read mapper for next-generation sequencing data which is widely used in the 1000 Genomes Project, and human clinical and other species genome studies.

Genomics · Quantitative Biology 2015-06-17 Wan-Ping Lee , Michael Stromberg , Alistair Ward , Chip Stewart , Erik Garrison , Gabor T. Marth

Searching for geometric objects that are close in space is a fundamental component of many applications. The performance of search algorithms comes to the forefront as the size of a problem increases both in terms of total object count as…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-06-30 D. Lebrun-Grandié , A. Prokopenko , B. Turcksin , S. R. Slattery

De novo genome assembly is challenging in highly repetitive regions; however, reference-guided assemblers often suffer from bias. We propose a framework for pangenome-guided sequence assembly, which can resolve short-read data in complex…

Quantum Physics · Physics 2026-02-11 Josh Cudby , James Bonfield , Chenxi Zhou , Richard Durbin , Sergii Strelchuk