Results 11 to 20 of about 174,007 (375)

A comprehensive benchmarking of WGS-based deletion structural variant callers [PDF]

Briefings Bioinform., 2022
Advances in whole-genome sequencing (WGS) promise to enable the accurate and comprehensive structural variant (SV) discovery. Dissecting SVs from WGS data presents a substantial number of challenges and a plethora of SV detection methods have been ...
Varuni Sarwal, Sebastian Niehus, Ram Ayyala, Minyoung Kim, Aditya Sarkar, Sei Chang, Angela Lu, Neha Rajkumar, Nicholas Darfci-Maher, Russell Littman, Karishma Chhugani, Arda Söylev, Zoia Comarova, Emily Wesel, Jacqueline Castellanos, Rahul Chikka, Margaret G. Distler, Eleazar Eskin, Jonathan Flint, Serghei Mangul   +19 more
openalex   +2 more sources

ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

Frontiers in Genetics, 2023
Technological advances in Next-Generation Sequencing dramatically increased clinical efficiency of genetic testing, allowing detection of a wide variety of variants, from single nucleotide events to large structural aberrations.
Ludmila Kaplun, G. Krautz‐Peterson, N. Neerman, C. Stanley, Shane P. Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun   +8 more
semanticscholar   +1 more source

A Practical Bioinformatics Workflow for Routine Analysis of Bacterial WGS Data

Microorganisms, 2022
The use of whole-genome sequencing (WGS) for bacterial characterisation has increased substantially in the last decade. Its high throughput and decreasing cost have led to significant changes in outbreak investigations and surveillance of a wide variety ...
Aitor Atxaerandio-Landa, A. Arrieta-Gisasola, L. Laorden, J. Bikandi, J. Garaizar, I. Martinez-Malaxetxebarria, I. Martínez-Ballesteros   +6 more
semanticscholar   +1 more source

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

BMC Medical Genomics, 2021
Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has ...
Yan Sun, Fengxia Liu, C. Fan, Yaoshen Wang, Lijie Song, Zhonghai Fang, R. Han, Zhonghua Wang, Xiaodan Wang, Ziying Yang, Zhenpeng Xu, Jiguang Peng, C. Shi, Hongyun Zhang, W. Dong, Hui Huang, Yun Li, Yanqun Le, Jun Sun, Zhiyu Peng   +19 more
semanticscholar   +1 more source

Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS

bioRxiv, 2021
Background Gene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment. Clinical decision-making requires high confidence and precision of detection.
I. V. van Belzen, Casey Cai, M. van Tuil, Shashi Badloe, E. Strengman, A. Janse, E. Verwiel, Douwe F.M. van der Leest, L. Kester, J. Molenaar, J. Meijerink, J. Drost, Weng Chuan Peng, H. Kerstens, B. Tops, F. Holstege, P. Kemmeren, J. Hehir-Kwa   +17 more
semanticscholar   +1 more source

Isolation and whole genome sequencing of a lipophilic anaerobic bacterium, a representative of the species complex Corynebacterium tuberculostearicum, from a tuberculosis focus

Acta Biomedica Scientifica, 2023
Background. The study of the lower respiratory tract microbiome has been actively developed inrecent years with the help of whole genome sequencing (WGS) methods. Due to this, it became clear that the nature of the lungs microbiota is very different from
O. B. Ogarkov, A. E. Suzdalnitsky, I. G. Kondratov, Yu. S. Bukin, E. A. Orlova, V. V. Sinkov, S. N. Zhdanova, N. L. Belkova, L. V. Rychkova, L. I. Kolesnikova   +9 more
doaj   +1 more source

Digital-WGS: Automated, highly efficient whole-genome sequencing of single cells by digital microfluidics

Science Advances, 2020
Digital-WGS enables high-performance single-cell sequencing with automatic processing based on digital microfluidics. Single-cell whole-genome sequencing (WGS) is critical for characterizing dynamic intercellular changes in DNA.
Qingyu Ruan, Weidong Ruan, Xiaoye Lin, Yang Wang, Fenxiang Zou, Leiji Zhou, Zhi Zhu, C. Yang   +7 more
semanticscholar   +1 more source

Implementation of Whole Genome Sequencing (WGS) for Identification and Characterization of Shiga Toxin-Producing Escherichia coli (STEC) in the United States [PDF]

Frontiers in Microbiology, 2016
Shiga toxin-producing Escherichia coli (STEC) is an important foodborne pathogen capable of causing severe disease in humans. Rapid and accurate identification and characterization techniques are essential during outbreak investigations.
Rebecca L. Lindsey, Hannes Pouseele, Jessica C. Chen, Nancy Strockbine, Heather A. Carleton   +4 more
openalex   +2 more sources

The Molecular Approaches and Challenges of Streptococcus pneumoniae Serotyping for Epidemiological Surveillance in the Vaccine Era

Polish Journal of Microbiology, 2023
Streptococcus pneumoniae (pneumococcus) belongs to the Gram-positive cocci. This bacterium typically colonizes the nasopharyngeal region of healthy individuals.
Abdul Rahman Nurul Asyikin, Mohd Desa Mohd Nasir, Masri Siti Norbaya, Taib Niazlin Mohd, Sulaiman Nurshahira, Hazman Hazmin, John James   +6 more
doaj   +1 more source

Whole-genome sequencing for national surveillance of Shiga toxin–producing Escherichia coli O157 [PDF]

, 2015
Background. National surveillance of gastrointestinal pathogens, such as Shiga toxin–producing Escherichia coli O157 (STEC O157), is key to rapidly identifying linked cases in the distributed food network to facilitate public health interventions.
Adak, Goutam, Ashton, Philip M., Byrne, Lisa, Cowley, Lauren A, Dallman, Timothy J, Ellis, Richard J, Elson, Richard, Grant, Kathie, Green, Jonathan, Hanage, William P, Jenkins, Claire, Perry, Neil T, Petrovska, Liljana, Underwood, Anthony, Wain, John   +14 more
core   +1 more source