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The complex correlation structure of a collection of orthologous DNA sequences is uniquely captured by the "ancestral recombination graph" (ARG), a complete record of coalescence and recombination events in the history of the sample.…

Populations and Evolution · Quantitative Biology 2013-12-04 Matthew D. Rasmussen , Melissa J. Hubisz , Ilan Gronau , Adam Siepel

Low-cost, high-throughput DNA and RNA sequencing (HTS) data is the backbone of the life sciences. Genome sequencing is now becoming a part of Predictive, Preventive, Personalized, and Participatory (termed 'P4') medicine. All genomic data…

PCR-based analysis of DNA is utilized in a wide variety of fields, including Forensic Science. Aside from the more common ample sources, material analyzed here can refer to specimen excavated from a soil environment, or a sampling of the…

Quantitative Methods · Quantitative Biology 2024-05-22 Wera M Schmerer

Genomic and metagenomic fields, generating huge sets of short genomic sequences, brought their own share of high performance problems. To extract relevant pieces of information from the huge data sets generated by current sequencing…

Data Structures and Algorithms · Computer Science 2016-05-27 Camille Marchet , Antoine Limasset , Lucie Bittner , Pierre Peterlongo

Foundation models have made significant strides in understanding the genomic language of DNA sequences. However, previous models typically adopt the tokenization methods designed for natural language, which are unsuitable for DNA sequences…

Genomics · Quantitative Biology 2024-12-19 Lifeng Qiao , Peng Ye , Yuchen Ren , Weiqiang Bai , Chaoqi Liang , Xinzhu Ma , Nanqing Dong , Wanli Ouyang

Metagenomics characterizes the taxonomic diversity of microbial communities by sequencing DNA directly from an environmental sample. One of the main challenges in metagenomics data analysis is the binning step, where each sequenced read is…

Quantitative Methods · Quantitative Biology 2015-05-27 Kévin Vervier , Pierre Mahé , Maud Tournoud , Jean-Baptiste Veyrieras , Jean-Philippe Vert

Several of the next generation sequencers are limited in their sample preparation process by the need to make an absolute measurement of the number of template molecules in the library to be sequenced. As currently practiced, the practical…

Quantitative Methods · Quantitative Biology 2008-08-19 Richard A. White , Paul Blainey , H. Christina Fan , Stephen R. Quake

By reducing resolution, coarse-grained models greatly accelerate molecular simulations, unlocking access to long-timescale phenomena, though at the expense of microscopic information. Recovering this fine-grained detail is essential for…

Chemical Physics · Physics 2026-03-27 Sander Hummerich , Tristan Bereau , Ullrich Köthe

The general trace reconstruction problem seeks to recover an original sequence from its noisy copies independently corrupted by deletions, insertions, and substitutions. This problem arises in applications such as DNA data storage, a…

Machine Learning · Computer Science 2025-07-18 Franziska Weindel , Michael Girsch , Reinhard Heckel

High throughput immune repertoire sequencing is promising to lead to new statistical diagnostic tools for medicine and biology. Successful implementations of these methods require a correct characterization, analysis and interpretation of…

Genomics · Quantitative Biology 2018-04-13 Quentin Marcou , Thierry Mora , Aleksandra M Walczak

Accumulation of standardized data collections is opening up novel opportunities for holistic characterization of genome function. The limited scalability of current preprocessing techniques has, however, formed a bottleneck for full…

Quantitative Methods · Quantitative Biology 2013-04-09 Leo Lahti , Aurora Torrente , Laura L. Elo , Alvis Brazma , Johan Rung

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

Traditionally, we usually utilize the method of shotgun to cut a DNA sequence into pieces and we have to reconstruct the original DNA sequence from the pieces, those are widely used method for DNA assembly. Emerging DNA sequence…

Distributed, Parallel, and Cluster Computing · Computer Science 2014-04-15 Yukun Zhong , ZhiWei He , XianHong Wang , XiongBin Cao

Current metagenomic analysis algorithms require significant computing resources, can report excessive false positives (type I errors), may miss organisms (type II errors / false negatives), or scale poorly on large datasets. This paper…

Databases · Computer Science 2015-01-23 Ashley Mae Conard , Stephanie Dodson , Jeremy Kepner , Darrell Ricke

In biomedical imaging, deep learning-based methods are state-of-the-art for every modality (virtual slides, MRI, etc.) In histopathology, these methods can be used to detect certain biomarkers or classify lesions. However, such techniques…

Computer Vision and Pattern Recognition · Computer Science 2023-03-10 Adrien Nivaggioli , Nicolas Pozin , Rémy Peyret , Stéphane Sockeel , Marie Sockeel , Nicolas Nerrienet , Marceau Clavel , Clara Simmat , Catherine Miquel

Since the advent of modern bioinformatics, the challenging, multifaceted problem of reconstructing phylogenetic history from biological sequences has hatched perennial statistical and algorithmic innovation. Studies of the phylogenetic…

Data Structures and Algorithms · Computer Science 2024-03-05 Matthew Andres Moreno , Santiago Rodriguez Papa , Emily Dolson

Metabarcoding on amplicons is rapidly expanding as a method to produce molecular based inventories of microbial communities. Here, we work on freshwater diatoms, which are microalgae possibly inventoried both on a morphological and a…

Quantitative Methods · Quantitative Biology 2016-11-30 J. -M. Frigerio , F. Rimet , A. Bouchez , E. Chancerel , P. Chaumeil , F. Salin , S. Thérond , M. Kahlert , A. Franc

We present the first attempt to perform short glass fiber semantic segmentation from X-ray computed tomography volumetric datasets at medium (3.9 {\mu}m isotropic) and low (8.3 {\mu}m isotropic) resolution using deep learning architectures.…

Computer Vision and Pattern Recognition · Computer Science 2019-01-07 Tomasz Konopczyński , Danish Rathore , Jitendra Rathore , Thorben Kröger , Lei Zheng , Christoph S. Garbe , Simone Carmignato , Jürgen Hesser

Current techniques in sequencing a genome allow a service provider (e.g. a sequencing company) to have full access to the genome information, and thus the privacy of individuals regarding their lifetime secret is violated. In this paper, we…

Genomics · Quantitative Biology 2018-11-28 Ali Gholami , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari

Background: The short reads output by first- and second-generation DNA sequencing instruments cannot completely reconstruct microbial chromosomes. Therefore, most genomes have been left unfinished due to the significant resources required…