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Motivation: Seed 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. Read mappers 1) quickly…

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

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

Sequence classification has a wide range of real-world applications in different domains, such as genome classification in health and anomaly detection in business. However, the lack of explicit features in sequence data makes it difficult…

Machine Learning · Computer Science 2023-06-19 Khaled Mohammed Saifuddin , Corey May , Farhan Tanvir , Muhammad Ifte Khairul Islam , Esra Akbas

Segmental duplications (SDs), or low-copy repeats (LCR), are segments of DNA greater than 1 Kbp with high sequence identity that are copied to other regions of the genome. SDs are among the most important sources of evolution, a common…

Data Structures and Algorithms · Computer Science 2018-09-25 Ibrahim Numanagić , Alim S. Gökkaya , Lillian Zhang , Bonnie Berger , Can Alkan , Faraz Hach

The integration of multi-omic data is pivotal for understanding complex diseases, but its high dimensionality and noise present significant challenges. Graph Neural Networks (GNNs) offer a robust framework for analyzing large-scale…

Quantitative Methods · Quantitative Biology 2024-12-23 Heming Zhang , Di Huang , Yixin Chen , Fuhai Li

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 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

Motivation: Protein-to-genome alignment is critical to annotating genes in non-model organisms. While there are a few tools for this purpose, all of them were developed over ten years ago and did not incorporate the latest advances in…

Genomics · Quantitative Biology 2022-12-29 Heng Li

The recent advances in sequencing technologies enables the assembly of individual genomes to the reference quality. How to integrate multiple genomes from the same species and to make the integrated representation accessible to biologists…

Genomics · Quantitative Biology 2020-03-16 Heng Li , Xiaowen Feng , Chong Chu

Background: The inception of next generations sequencing technologies have exponentially increased the volume of biological sequence data. Protein sequences, being quoted as the `language of life', has been analyzed for a multitude of…

Quantitative Methods · Quantitative Biology 2020-12-08 Nabil Ibtehaz , S. M. Shakhawat Hossain Sourav , Md. Shamsuzzoha Bayzid , M. Sohel Rahman

Searching for similar genomic sequences is an essential and fundamental step in biomedical research and an overwhelming majority of genomic analyses. State-of-the-art computational methods performing such comparisons fail to cope with the…

Data Structures and Algorithms · Computer Science 2024-07-11 Mohammed Alser , Julien Eudine , Onur Mutlu

In this paper, I introduce a Sequence-based Multiscale Model (SeqMM) for the biomolecular data analysis. With the combination of spectral graph method, I reveal the essential difference between the global scale models and local scale ones…

Quantitative Methods · Quantitative Biology 2019-03-08 Kelin Xia

High-throughput sequencing (HTS) technologies have revolutionized the field of genomics, enabling rapid and cost-effective genome analysis for various applications. However, the increasing volume of genomic data generated by HTS…

Hardware Architecture · Computer Science 2023-06-01 Onur Mutlu , Can Firtina

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

Motivation: High throughput DNA sequencing (HTS) technologies generate an excessive number of small DNA segments -- called short reads -- that cause significant computational burden. To analyze the entire genome, each of the billions of…

Genomics · Quantitative Biology 2020-09-29 Mohammed Alser , Hasan Hassan , Hongyi Xin , Oğuz Ergin , Onur Mutlu , Can Alkan

Homomorphism is a key mapping technique between graphs that preserves their structure. Given a graph and a pattern, the subgraph homomorphism problem involves finding a mapping from the pattern to the graph, ensuring that adjacent vertices…

Artificial Intelligence · Computer Science 2025-12-18 Shuyang Guo , Wenjin Xie , Ping Lu , Ting Deng , Richong Zhang , Jianxin Li , Xiangping Huang , Zhongyi Liu

Background: Identifying all possible mapping locations of next-generation sequencing (NGS) reads is highly essential in several applications such as prediction of genomic variants or protein binding motifs located in repeat regions, isoform…

Genomics · Quantitative Biology 2020-03-25 Ngoc Hieu Tran , Xin Chen

Motivation: Sequence mapping is the cornerstone of modern genomics. However, most existing sequence mapping algorithms are insufficiently general. Results: We introduce context schemes: a method that allows the unambiguous recognition of a…

Genomics · Quantitative Biology 2015-08-28 Adam Novak , Yohei Rosen , David Haussler , Benedict Paten

Molecular simulations have assumed a paramount role in the fields of chemistry, biology, and material sciences, being able to capture the intricate dynamic properties of systems. Within this realm, coarse-grained (CG) techniques have…

Chemical Physics · Physics 2026-03-06 Daniele Angioletti , Stefano Raniolo , Vittorio Limongelli