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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

In sequence-based predictions, conventionally an input sequence is represented by a multiple sequence alignment (MSA) or a representation derived from MSA, such as a position-specific scoring matrix. Recently, inspired by the development in…

Quantitative Methods · Quantitative Biology 2021-10-18 Nabil Ibtehaz , Daisuke Kihara

Several processes in the cell, such as gene regulation, start when key proteins recognise and bind to short DNA sequences. However, as these sequences can be hundreds of million times shorter than the genome, they are hard to find by simple…

Subcellular Processes · Quantitative Biology 2021-01-27 Markus Nyberg , Tobias Ambjörnsson , Per Stenberg , and Ludvig Lizana

Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Genomics · Quantitative Biology 2025-05-07 Frederikke I. Marin , Dennis Pultz , Wouter Boomsma

Genomic (DNA) sequences encode an enormous amount of information for gene regulation and protein synthesis. Similar to natural language models, researchers have proposed foundation models in genomics to learn generalizable features from…

Multiple sequence alignment (MSA) has been one of the most important problems in bioinformatics for more decades and it is still heavily examined by many mathematicians and biologists. However, mostly because of the practical motivation of…

Quantitative Methods · Quantitative Biology 2015-11-17 Kristóf Takács

Detection transformers have recently shown promising object detection results and attracted increasing attention. However, how to develop effective domain adaptation techniques to improve its cross-domain performance remains unexplored and…

Computer Vision and Pattern Recognition · Computer Science 2022-07-18 Wen Wang , Yang Cao , Jing Zhang , Fengxiang He , Zheng-Jun Zha , Yonggang Wen , Dacheng Tao

The process of DNA-based data storage (DNA storage for short) can be mathematically modelled as a communication channel, termed DNA storage channel, whose inputs and outputs are sets of unordered sequences. To design error correcting codes…

Information Theory · Computer Science 2020-06-11 Wentu Song , Kui Cai , Kees A. Schouhamer Immink

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…

Sequencing a genome to determine an individual's DNA produces an enormous number of short nucleotide subsequences known as reads, which must be reassembled to reconstruct the full genome. We present a method for analyzing this type of data…

Machine Learning · Computer Science 2025-05-23 Filip Thor , Carl Nettelblad

Biological sequence comparison is a key step in inferring the relatedness of various organisms and the functional similarity of their components. Thanks to the Next Generation Sequencing efforts, an abundance of sequence data is now…

Machine Learning · Computer Science 2016-09-13 Dhananjay Kimothi , Akshay Soni , Pravesh Biyani , James M. Hogan

Pairwise alignment of DNA sequencing data is a ubiquitous task in bioinformatics and typically represents a heavy computational burden. State-of-the-art approaches to speed up this task use hashing to identify short segments (k-mers) that…

Machine Learning · Computer Science 2021-02-16 Govinda M. Kamath , Tavor Z. Baharav , Ilan Shomorony

DNA sequencing is the basic workhorse of modern day biology and medicine. Shotgun sequencing is the dominant technique used: many randomly located short fragments called reads are extracted from the DNA sequence, and these reads are…

Information Theory · Computer Science 2013-02-15 Abolfazl Motahari , Guy Bresler , David Tse

Short-read DNA sequencing instruments can yield over 1e+12 bases per run, typically composed of reads 150 bases long. Despite this high throughput, de novo assembly algorithms have difficulty reconstructing contiguous genome sequences using…

Genomics · Quantitative Biology 2023-06-09 Eric Chen , Justin Chu , Jessica Zhang , Rene L. Warren , Inanc Birol

DNA sequences encode critical genetic information, yet their variable length and discrete nature impede direct utilization in deep learning models. Existing DNA representation schemes convert sequences into numerical vectors but fail to…

Genomics · Quantitative Biology 2025-12-16 Zhiyuan Peng , Naifan Zhang , Yuanbo Tang , Yang Li

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

Next-generation sequencing (NGS) technologies have enabled affordable sequencing of billions of short DNA fragments at high throughput, paving the way for population-scale genomics. Genomics data analytics at this scale requires overcoming…

Databases · Computer Science 2019-10-11 Darryl Ho , Jialin Ding , Sanchit Misra , Nesime Tatbul , Vikram Nathan , Vasimuddin Md , Tim Kraska

Aligning millions of short DNA or RNA reads, of 75 to 250 base pairs each, to a reference genome is a significant computation problem in bioinformatics. We present a flexible and fast FPGA-based short read alignment tool. Our aligner makes…

Genomics · Quantitative Biology 2018-05-02 Nathaniel McVicar , Akina Hoshino , Anna La Torre , Thomas A. Reh , Walter L. Ruzzo , Scott Hauck

This paper focuses on pattern matching in the DNA sequence. It was inspired by a previously reported method that proposes encoding both pattern and sequence using prime numbers. Although fast, the method is limited to rather small pattern…

Computer Vision and Pattern Recognition · Computer Science 2016-11-21 Janja Paliska Soldo , Ana Sovic Krzic , and Damir Sersic

The tremdendous advances in high-throughput sequencing technologies have made population-scale sequencing as performed in the 1000 Genomes project and the Genome of the Netherlands project possible. Next-generation sequencing has allowed…

Genomics · Quantitative Biology 2013-03-15 Tobias Marschall , Alexander Schönhuth