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Longitudinal resolution and lateral sensitivity are decisive characteristics that determine the suitability of a nanopore sensor for sequencing a strand of DNA as well as other important polymers. Previous modeling of DNA induced ionic…

Biological Physics · Physics 2012-05-18 Slaven Garaj , Song Liu , Daniel Branton , Jene A. Golovchenko

Sequences of nucleotides (for DNA and RNA) or amino acids (for proteins) are central objects in biology. Among the most important computational problems is that of sequence alignment, i.e. arranging sequences from different organisms in…

Quantitative Methods · Quantitative Biology 2020-12-08 Anna Paola Muntoni , Andrea Pagnani , Martin Weigt , Francesco Zamponi

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

The advent of high-throughput sequencing technologies has revolutionized genome analysis by enabling the rapid and cost-effective sequencing of large genomes. Despite these advancements, the increasing complexity and volume of genomic data…

Genomics · Quantitative Biology 2025-03-06 Can Firtina

DNA sequence alignment involves assigning short DNA reads to the most probable locations on an extensive reference genome. This process is crucial for various genomic analyses, including variant calling, transcriptomics, and epigenomics.…

Several studies suggest strong correlation between different types of cancer and the relative concentration of short circulating RNA sequences (miRNA). Because of short length and low concentration, miRNA detection is not easy. Standard…

Mesoscale and Nanoscale Physics · Physics 2021-10-25 Luyan Yang , Christophe Cullin , Juan Elezgaray

The determination of a patient's DNA sequence can, in principle, reveal an increased risk to fall ill with particular diseases [1,2] and help to design "personalized medicine" [3]. Moreover, statistical studies and comparison of genomes [4]…

RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput…

Genomics · Quantitative Biology 2015-06-19 Hyunghoon Cho , Joe Davis , Xin Li , Kevin S. Smith , Alexis Battle , Stephen B. Montgomery

In unforeseen situations, such as nuclear power plant's or civilian radiation accidents, there is a need for effective and computationally inexpensive methods to determine the expression level of a selected gene panel, allowing for rough…

Genomics · Quantitative Biology 2024-12-13 Tomasz Strzoda , Lourdes Cruz-Garcia , Mustafa Najim , Christophe Badie , Joanna Polanska

Virtual screening (VS) is an essential task in drug discovery, focusing on the identification of small-molecule ligands that bind to specific protein pockets. Existing deep learning methods, from early regression models to recent…

Machine Learning · Computer Science 2025-11-11 Bowei He , Bowen Gao , Yankai Chen , Yanyan Lan , Chen Ma , Philip S. Yu , Ya-Qin Zhang , Wei-Ying Ma

The alignment of biological sequences such as DNA, RNA, and proteins, is one of the basic tools that allow to detect evolutionary patterns, as well as functional/structural characterizations between homologous sequences in different…

Quantitative Methods · Quantitative Biology 2023-05-01 Louise Budzynski , Andrea Pagnani

The massive amount of genomic data appearing for SARS-CoV-2 since the beginning of the COVID-19 pandemic has challenged traditional methods for studying its dynamics. As a result, new methods such as Pangolin, which can scale to the…

Quantitative Methods · Quantitative Biology 2022-11-16 Prakash Chourasia , Sarwan Ali , Simone Ciccolella , Gianluca Della Vedova , Murray Patterson

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

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

Nanopore sequencing enables real-time long-read DNA sequencing with reads exceeding 10 kilobases, but inherent error rates of 12-15 percent present significant computational challenges for read alignment. The critical seed chaining step…

Genomics · Quantitative Biology 2025-11-05 Jahidul Arafat , Sanjaya Poudel

In this paper, fundamental limits in sequencing of a set of closely related DNA molecules are addressed. This problem is called pooled-DNA sequencing which encompasses many interesting problems such as haplotype phasing, metageomics, and…

Information Theory · Computer Science 2016-04-20 Amir Najafi , Damoun Nashta-ali , Seyed Abolfazl Motahari , Mehrdad Khani , Babak H. Khalaj , Hamid R. Rabiee

Nanopore sequencers generate electrical raw signals in real-time while sequencing long genomic strands. These raw signals can be analyzed as they are generated, providing an opportunity for real-time genome analysis. An important feature of…

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

In this paper, we propose DeepAlign, a novel approach to multi-perspective process anomaly correction, based on recurrent neural networks and bidirectional beam search. At the core of the DeepAlign algorithm are two recurrent neural…

Artificial Intelligence · Computer Science 2020-03-25 Timo Nolle , Alexander Seeliger , Nils Thoma , Max Mühlhäuser

Raw nanopore signal analysis is a common approach in genomics to provide fast and resource-efficient analysis without translating the signals to bases (i.e., without basecalling). However, existing solutions cannot interpret raw signals…