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1,069 Results Found

  • Article
  • Open Access
18 Citations
7,138 Views
16 Pages

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark

  • Yang Pei,
  • Melanie Tanguy,
  • Adam Giess,
  • Abhijit Dixit and ,
  • Louise C. Wilson,
  • Richard J. Gibbons,
  • Stephen R. F. Twigg,
  • Greg Elgar and
  • Andrew O. M. Wilkie
  • + 4 authors+ 0 author

16 July 2024

The identification of structural variants (SVs) in genomic data represents an ongoing challenge because of difficulties in reliable SV calling leading to reduced sensitivity and specificity. We prepared high-quality DNA from 9 parent–child trio...

(This article belongs to the Special Issue Advances of Optical Genome Mapping in Human Genetics)
  • Article
  • Open Access
1 Citations
4,236 Views
18 Pages

Toward a Kinh Vietnamese Reference Genome: Constructing a De Novo Genome Assembly Using Long-Read Sequencing and Optical Mapping

  • Le Thi Dung,
  • Le Tung Lam,
  • Nguyen Hong Trang,
  • Nguyen Vu Hung Anh and ,
  • Nguyen Ngoc Nam,
  • Doan Thi Nhung,
  • Tran Huyen Linh,
  • Le Ngoc Giang,
  • Hoang Ha and
  • Truong Nam Hai
  • + 6 authors+ 1 author

29 April 2025

Background: Population-specific reference genomes are essential for improving the accuracy and reliability of genomic analyses across diverse human populations. Although Vietnam ranks as the 16th most populous country in the world, with more than 86%...

(This article belongs to the Section Technologies and Resources for Genetics)
  • Article
  • Open Access
29 Citations
12,031 Views
21 Pages

In late 2023, the image-reading capability added to a Generative Pre-trained Transformer (GPT) framework provided the opportunity to potentially revolutionize the way we view and understand geographic maps, the core component of cartography, geograph...

(This article belongs to the Special Issue Advances in AI-Driven Geospatial Analysis and Data Generation)
  • Article
  • Open Access
30 Citations
8,226 Views
24 Pages

Differences in Thematic Map Reading by Students and Their Geography Teacher

  • Marketa Beitlova,
  • Stanislav Popelka and
  • Vit Vozenilek

A school world atlas is likely the first systematic cartographic product which students encounter in their lives. However, only a few empirical studies have analysed school atlases in the context of map reading and learning geographical curricula. Th...

  • Article
  • Open Access
21 Citations
6,042 Views
13 Pages

Assessing Map-Reading Skills Using Eye Tracking and Bayesian Structural Equation Modelling

  • Weihua Dong,
  • Yuhao Jiang,
  • Liangyu Zheng,
  • Bing Liu and
  • Liqiu Meng

28 August 2018

Map reading is an important skill for acquiring spatial information. Previous studies have mainly used results-based assessments to learn about map-reading skills. However, how to model the relationship between map-reading skills and eye movement met...

  • Letter
  • Open Access
15 Citations
7,520 Views
16 Pages

7 August 2020

As a reading comprehension strategy, mind mapping has a positive influence on the development of students’ reading ability. However, how mind mapping affects reading ability has not been well documented. In this study, we used eye tracking sens...

(This article belongs to the Section Physical Sensors)
  • Article
  • Open Access
8 Citations
6,854 Views
20 Pages

Misinterpreting maps can have serious consequences, especially in situations requiring quick decisions like using car navigation systems. Studies indicate that a map reader’s experience is crucial for understanding maps, but factors such as age...

  • Article
  • Open Access
4 Citations
3,950 Views
11 Pages

Preschoolers’ Perceptual Analogical Reasoning and Map Reading: A Preliminary Study on the Mediating Effect of Spatial Language

  • Marco Giancola,
  • Maria Chiara Pino,
  • Valentina Riccio,
  • Laura Piccardi and
  • Simonetta D’Amico

28 March 2023

Reading and interpreting a map represents an essential part of daily life, enabling appropriate orientation and navigation through space. Based on the idea that perceptual analogical reasoning is critical in aligning the spatial structure of the map...

(This article belongs to the Section Pediatric Neurology & Neurodevelopmental Disorders)
  • Article
  • Open Access
140 Views
28 Pages

Automatic Reading of Analog Pointer Meters Based on YOLO Localization and Template-Calibrated Angle-to-Value Mapping

  • Shijie Zhang,
  • Yu’ang Qin,
  • Hui Zhang,
  • Jilong Wang and ,
  • Xiang Wu,
  • Zhanyuan Cao and
  • Mengkun Zhang
  • + 2 authors+ 0 author

21 October 2026

Automatic reading of analog pointer meters is affected by complex backgrounds, illumination changes, and camera viewpoints. This study implements and evaluates a template-calibrated reading procedure that integrates established detection and image-pr...

(This article belongs to the Special Issue Advances in Image Processing and Computer Vision)
  • Article
  • Open Access
1,295 Views
29 Pages

Enhancing Spatial Orientation and Map-Reading Skills: Using Mental Maps and VR in Field Trips for Geography Students

  • Péter Czomba,
  • Klára Czimre,
  • Károly Teperics,
  • Gyöngyi Bujdosó and ,
  • Ernő Molnár,
  • Gábor Négyesi and
  • Bálint Bence Juhász
  • + 2 authors+ 0 author

Enhancing spatial orientation and map-reading skills is a cornerstone of geography education, yet the comparative efficacy of physical versus virtual reality learning environments (VRLEs) remains a subject of ongoing debate. This study evaluates the...

  • Review
  • Open Access
26 Citations
7,053 Views
13 Pages

31 December 2020

Ever since the introduction of high-throughput sequencing following the human genome project, assembling short reads into a reference of sufficient quality posed a significant problem as a large portion of the human genome—estimated 50–69...

(This article belongs to the Section Technologies and Resources for Genetics)
  • Communication
  • Open Access
1,629 Views
10 Pages

For gene expression analysis in complex microbiomes, utilizing both metagenomic and metatranscriptomic reads from the same sample enables advanced functional analysis. Due to their diversity, metagenomic contigs are often used as reference sequences...

(This article belongs to the Special Issue Microbial Genome Analysis and Interpretation Using Computational Approaches—Second Edition)
  • Article
  • Open Access
45 Citations
12,230 Views
17 Pages

Quantification of gene expression is crucial to connect genome sequences with phenotypic and physiological data. RNA-Sequencing (RNA-Seq) has taken a prominent role in the study of transcriptomic reactions of plants to various environmental and genet...

(This article belongs to the Section Molecular Informatics)
  • Article
  • Open Access
19 Citations
7,223 Views
12 Pages

13 March 2018

High-throughput sequence data retrieved from ancient or other degraded samples has led to unprecedented insights into the evolutionary history of many species, but the analysis of such sequences also poses specific computational challenges. The most...

(This article belongs to the Special Issue Novel and Neglected Areas of Ancient DNA Research)
  • Article
  • Open Access
5 Citations
4,786 Views
14 Pages

Recent technological advancements in many areas have changed the way that individuals interact with the world. Some daily tasks require visualization skills, especially when in a map-reading context. Augmented Reality systems could provide substantia...

  • Article
  • Open Access
4 Citations
4,691 Views
15 Pages

Physlr: Next-Generation Physical Maps

  • Amirhossein Afshinfard,
  • Shaun D. Jackman,
  • Johnathan Wong,
  • Lauren Coombe and ,
  • Justin Chu,
  • Vladimir Nikolic,
  • Gokce Dilek,
  • Yaman Malkoç,
  • René L. Warren and
  • Inanc Birol
  • + 5 authors+ 0 author

10 June 2022

While conventional physical maps helped build most of the reference genomes we use today, generating the maps was prohibitively expensive, and the technology was abandoned in favor of whole-genome shotgun sequencing (WGS). However, genome assemblies...

  • Article
  • Open Access
7 Citations
4,528 Views
20 Pages

29 November 2023

How does a child learn to read a map? In 2007, the authors of an article in the Journal of Geography proposed a tentative list of eight “modes of spatial reasoning” that children may use to organize their perceptions of information on a m...

(This article belongs to the Special Issue Progress in Geography Education Research)
  • Review
  • Open Access
9 Citations
6,334 Views
24 Pages

11 February 2022

During the last decade, genetic testing has emerged as an important etiological diagnostic tool for Mendelian diseases, including pediatric neurological conditions. A genetic diagnosis has a considerable impact on disease management and treatment; ho...

(This article belongs to the Special Issue Genetic Basis of Sensory and Neurological Disorders)
  • Article
  • Open Access
2 Citations
1,084 Views
28 Pages

This study aimed to design a virtual reality (VR)–based mountaineering education system and examined its effects on junior high school students’ learning outcomes, motivation, and cognitive load in compass operation and map reading. The s...

  • Article
  • Open Access
2 Citations
2,010 Views
17 Pages

Visual search is a core component of map reading, influenced by both cartographic design and human perceptual processes. This study investigates whether the location of a target cartographic symbol—central or peripheral—can be predicted using eye-tra...

  • Article
  • Open Access
2,470 Views
9 Pages

Fast, Ungapped Reads Mapping Using Squid

  • Christopher Riccardi,
  • Gabriel Innocenti,
  • Marco Fondi and
  • Giovanni Bacci

Advances in Next Generation Sequencing technologies allow us to inspect and unlock the genome to a level of detail that was unimaginable only a few decades ago. Omics-based studies are casting a light on the patterns and determinants of disease condi...

(This article belongs to the Special Issue New Advances in Environmental Microbiology)
  • Review
  • Open Access
2,990 Views
21 Pages

Pangenome Graphs: Concepts, Tools, and Emerging Trends in Genomic Analysis

  • Fathima Nuzla Ismail,
  • Shanika Amarasoma and
  • Abira Sengupta

The emergence of pangenome graphs represents a paradigm shift in genomics, moving beyond linear reference genomes to embrace the full spectrum of genetic diversity within and across species. These graph-based models provide a unified framework for re...

  • Article
  • Open Access
20 Citations
4,253 Views
16 Pages

Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene

  • Leoni S. Erbe,
  • Sabine Hoffjan,
  • Sören Janßen,
  • Moritz Kneifel and ,
  • Karsten Krause,
  • Wanda M. Gerding,
  • Kristina Döring,
  • Anne-Katrin Güttsches,
  • Andreas Roos and
  • Cornelia Köhler
  • + 10 authors+ 5 authors

28 September 2023

Duchenne muscular dystrophy (DMD) is a severe progressive muscle disease that mainly affects boys due to X-linked recessive inheritance. In most affected individuals, MLPA or sequencing-based techniques detect deletions, duplications, or point mutati...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
45 Citations
34,403 Views
14 Pages

2 April 2020

High-throughput sequencing technologies have rapidly developed during the past years and have become an essential tool in plant sciences. However, the analysis of genomic data remains challenging and relies mostly on the performance of automatic pipe...

(This article belongs to the Section Plant Genetics, Genomics and Biotechnology)
  • Article
  • Open Access
17 Citations
7,112 Views
23 Pages

Numbers on Thematic Maps: Helpful Simplicity or Too Raw to Be Useful for Map Reading?

  • Jolanta Korycka-Skorupa and
  • Izabela Małgorzata Gołębiowska

As the development of small-scale thematic cartography continues, there is a growing interest in simple graphic solutions, e.g., in the form of numerical values presented on maps to replace or complement well-established quantitative cartographic met...

  • Article
  • Open Access
19 Citations
15,488 Views
24 Pages

Recently, due to Web 2.0 and neocartography, heat maps have become a popular map type for quick reading. Heat maps are graphical representations of geographic data density in the form of raster maps, elaborated by applying kernel density estimation w...

(This article belongs to the Special Issue Geovisualization and Map Design)
  • Article
  • Open Access
18 Citations
7,670 Views
26 Pages

This study investigates how expert and novice map users’ attention is influenced by the map design characteristics of 2D web maps by building and sharing a framework to analyze large volumes of eye tracking data. Our goal is to respond to the f...

(This article belongs to the Special Issue Eye-Tracking in Cartography)
  • Article
  • Open Access
31 Citations
6,146 Views
16 Pages

6 September 2019

A computer vision method for measuring multiple pointer meters is proposed based on the inverse perspective mapping. First, the measured meter scales are used as the calibration objects to obtain the extrinsic parameters of the meter plane. Second, n...

(This article belongs to the Section Computing and Artificial Intelligence)
  • Article
  • Open Access
884 Views
14 Pages

30 December 2025

The identification of mRNA isoforms in biological samples is crucial for studying tissue- and cell-specific isoform expression, activity of tissue-specific promoters, alternative splicing events, and alternative polyadenylation signals in genes. For...

(This article belongs to the Special Issue Current Advances in Echinoderm Research (2nd Edition))
  • Article
  • Open Access
2 Citations
4,470 Views
11 Pages

Spatial Position and Anatomical Characteristics Associated with Impacted Third Molars Using a Map-Reading Strategy on Cone-Beam Computed Tomography Scans: A Retrospective Analysis

  • Djalma Maciel de Lima,
  • Cyntia Rodrigues de Araújo Estrela,
  • Cristiane Martins Rodrigues Bernardes,
  • Lucas Rodrigues de Araújo Estrela and ,
  • Mike Reis Bueno and
  • Carlos Estrela
  • + 1 author+ 0 author

(1) Background: This study assessed the spatial position and anatomical features associated with impacted third molars through a map-reading strategy employing cone-beam computed tomography (CBCT). (2) Methods: The positioning of impacted third molar...

(This article belongs to the Section Point-of-Care Diagnostics and Devices)
  • Review
  • Open Access
35 Citations
7,113 Views
23 Pages

16 July 2018

Venoms are evolutionary key adaptations that species employ for defense, predation or competition. However, the processes and forces that drive the evolution of venoms and their toxin components remain in many aspects understudied. In particular, the...

(This article belongs to the Section Animal Venoms)
  • Article
  • Open Access
13 Citations
21,269 Views
75 Pages

31 March 2010

Entropy can be defined as the antithesis of well-formed true reports that agree with each other and with the material facts accessible through the experience of one or more competent observers. The abstract convergence (strictly formal, logical agree...

(This article belongs to the Special Issue Cybersemiotics—Integration of the informational and semiotic paradigms of cognition and communication)
  • Article
  • Open Access
49 Citations
7,824 Views
19 Pages

Nuclear Orthologs Derived from Whole Genome Sequencing Indicate Cryptic Diversity in the Bemisia tabaci (Insecta: Aleyrodidae) Complex of Whiteflies

  • Robert S. de Moya,
  • Judith K. Brown,
  • Andrew D. Sweet,
  • Kimberly K. O. Walden and ,
  • Jorge R. Paredes-Montero,
  • Robert M. Waterhouse and
  • Kevin P. Johnson
  • + 2 authors+ 0 author

29 August 2019

The Bemisia tabaci complex of whiteflies contains globally important pests thought to contain cryptic species corresponding to geographically structured phylogenetic clades. Although mostly morphologically indistinguishable, differences have been sho...

(This article belongs to the Special Issue Biodiversity of Insect)
  • Article
  • Open Access
5 Citations
5,877 Views
18 Pages

The characteristics of modern science, i.e., data-intensive, multidisciplinary, open, and heavily dependent on Internet technologies, entail the creation of a linked scholarly record that is online and open. Instrumental in making this vision happen...

(This article belongs to the Special Issue Digital Publishing - Transformations)
  • Review
  • Open Access
160 Views
27 Pages

Small Supernumerary Marker Chromosomes in Humans: From Classical Cytogenetics to High-Resolution Cytogenomics

  • Nikolay B. Rubtsov,
  • Tatyana V. Karamysheva,
  • Anna A. Kashevarova and
  • Igor N. Lebedev

1 November 2026

Small supernumerary marker chromosomes (sSMCs) are additional chromosomal elements smaller than or equal to chromosome 20, with a prevalence of ~0.044% in the population. Their clinical impact ranges from asymptomatic carriage to severe congenital, n...

(This article belongs to the Special Issue Genes and Human Diseases: 3rd Edition)
  • Article
  • Open Access
1 Citations
3,339 Views
8 Pages

Background: High-altitude mountaineering is becoming more popular. Despite technical developments such as global positioning systems, mountaineers still lose their way. This study aimed to analyze characteristics of alpinists that lost their way whil...

(This article belongs to the Special Issue Health, Wellbeing and Performance in Extreme Environments)
  • Article
  • Open Access
7 Citations
8,204 Views
24 Pages

Noncanonical Expression of a Murine Cytomegalovirus Early Protein CD8 T-Cell Epitope as an Immediate Early Epitope Based on Transcription from an Upstream Gene

  • Annette Fink,
  • Julia K. Büttner,
  • Doris Thomas,
  • Rafaela Holtappels and ,
  • Matthias J. Reddehase and
  • Niels A. W. Lemmermann
  • + 1 author+ 0 author

14 February 2014

Viral CD8 T-cell epitopes, represented by viral peptides bound to major histocompatibility complex class-I (MHC-I) glycoproteins, are often identified by “reverse immunology”, a strategy not requiring biochemical and structural knowledge of the actua...

(This article belongs to the Special Issue Recent CMV Research)
  • Article
  • Open Access
3,734 Views
16 Pages

(Mind)-Reading Maps

  • Fernanda Velázquez Coccia

In a two-system theory for mind-reading, a flexible system (FS) enables full-blown mind-reading, and an efficient system (ES) enables early mind-reading. Efficient processing differs from flexible processing in terms of restrictions on the kind of in...

(This article belongs to the Special Issue Philosophy of Cognitive Science: Selected Papers from WPCS 2017)
  • Article
  • Open Access
4 Citations
2,972 Views
11 Pages

Short Sequence Aligner Benchmarking for Chromatin Research

  • John Lawrence Carter,
  • Harlan Stevens,
  • Perry G. Ridge and
  • Steven Michael Johnson

14 September 2023

Much of today’s molecular science revolves around next-generation sequencing. Frequently, the first step in analyzing such data is aligning sequencing reads to a reference genome. This step is often taken for granted, but any analysis downstrea...

(This article belongs to the Special Issue Current Research on Chromatin Structure and Function)
  • Article
  • Open Access
22 Citations
7,562 Views
22 Pages

Visual attention plays a crucial role in the map-reading process and is closely related to the map cognitive process. Eye-tracking data contains a wealth of visual information that can be used to identify cognitive behavior during map reading. Nevert...

(This article belongs to the Special Issue Eye-Tracking in Cartography)
  • Article
  • Open Access
27 Citations
12,505 Views
20 Pages

It is acknowledged that various types of thematic maps emphasize different aspects of mapped phenomena and thus support different map users’ tasks. To provide empirical evidence, a user study with 366 participants was carried out comparing three map...

(This article belongs to the Special Issue Cartographic Communication of Big Data)
  • Article
  • Open Access
2,781 Views
8 Pages

Reference Mapping Considering Swaps of Adjacent Bases

  • Youngho Kim,
  • Munseong Kang,
  • Ju-Hui Jeong,
  • Dae Woong Kang and ,
  • Soo Jun Park and
  • Jeong Seop Sim
  • + 1 author+ 0 author

29 May 2021

Since the time of the HGP, research into next-generation sequencing, which can reduce the cost and time of sequence analysis using computer algorithms, has been actively conducted. Mapping is a next-generation sequencing method that identifies sequen...

(This article belongs to the Special Issue 10th Anniversary of Applied Sciences: Invited Papers in Applied Biosciences and Bioengineering Section)
  • Article
  • Open Access
2 Citations
2,860 Views
23 Pages

Effectiveness of Adjacent and Bivariate Maps in Communicating Global Sensitivity Analysis for Geodiversity Assessment

  • Piotr Jankowski,
  • Seda Şalap-Ayça,
  • Alicja Najwer,
  • Arika Ligmann-Zielińska and
  • Zbigniew Zwoliński

This study compares adjacent and bivariate maps in communicating variance-based global sensitivity analysis (GSA) results for a geodiversity assessment spatial multi-criteria model and examines the influence of prior exposure to geodiversity and map...

  • Article
  • Open Access
1 Citations
3,027 Views
17 Pages

31 October 2021

Estimating the taxonomic composition of viral sequences in a biological samples processed by next-generation sequencing is an important step in comparative metagenomics. Mapping sequencing reads against a database of known viral reference genomes, ho...

(This article belongs to the Section Bioinformatics)
  • Article
  • Open Access
12 Citations
12,666 Views
20 Pages

13 September 2010

This study presents a new computer program for assessing the effects of different factors and sequencing strategies on de novo sequence assembly. The program uses reads from actual sequencing studies or from simulations with a reference genome that m...

(This article belongs to the Special Issue Next Generation DNA Sequencing)
  • Article
  • Open Access
8 Citations
7,596 Views
27 Pages

Reconstructing Prehistoric Viral Genomes from Neanderthal Sequencing Data

  • Renata C. Ferreira,
  • Gustavo V. Alves,
  • Marcello Ramon,
  • Fernando Antoneli and
  • Marcelo R. S. Briones

27 May 2024

DNA viruses that produce persistent infections have been proposed as potential causes for the extinction of Neanderthals, and, therefore, the identification of viral genome remnants in Neanderthal sequence reads is an initial step to address this hyp...

(This article belongs to the Section Human Virology and Viral Diseases)
  • Article
  • Open Access
1 Citations
11,171 Views
19 Pages

Sex-Specific Expression of Non-Coding RNA Fragments in Frontal Cortex, Hippocampus and Cerebellum of Rats

  • Anna Fiselier,
  • Boseon Byeon,
  • Yaroslav Ilnytskyy,
  • Igor Kovalchuk and
  • Olga Kovalchuk

Non-coding RNA fragments (ncRFs) are processed from various non-coding RNAs (ncRNAs), with the most abundant being those produced from tRNAs. ncRFs were reported in many animal and plant species. Many ncRFs exhibit tissue specificity or/and are affec...

  • Article
  • Open Access
12 Citations
3,599 Views
13 Pages

Massive Parallel Alignment of RNA-seq Reads in Serverless Computing

  • Pietro Cinaglia,
  • José Luis Vázquez-Poletti and
  • Mario Cannataro

In recent years, the use of Cloud infrastructures for data processing has proven useful, with a computing potential that is not affected by the limitations of a local infrastructure. In this context, Serverless computing is the fastest-growing Cloud...

  • Article
  • Open Access
17 Citations
5,929 Views
22 Pages

Modeling Patterns in Map Use Contexts and Mobile Map Design Usability

  • Mona Bartling,
  • Clemens R. Havas,
  • Stefan Wegenkittl,
  • Tumasch Reichenbacher and
  • Bernd Resch

Mobile map applications are increasingly used in various aspects of our lives, leading to an increase in different map use situations and, therefore, map use contexts. Several empirical usability studies have identified how map design is associated w...

  • Article
  • Open Access
101 Views
18 Pages

5 November 2026

Integrating CAD-based mine maps with GIS through ETL tools requires an intermediate spatial data format suitable for a range of applications. This industrial case study compares GeoJSON, GeoPackage and GML, each uncompressed and in ZIP archives, usin...

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