Results 41 to 50 of about 162,110 (330)

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

Analysis of Drug-Resistance Characteristics and Genetic Diversity of Multidrug-Resistant Tuberculosis Based on Whole-Genome Sequencing on the Hainan Island, China

Infection and Drug Resistance, 2023
Jieying Wang,* Chunchun Yu,* Yuni Xu,* Zhuolin Chen, Wenhua Qiu, Shaowen Chen, Hua Pei, Yeteng Zhong Department of Clinical Laboratory, The Second Affiliated Hospital of Hainan Medical University, Haikou, 570216, People’s Republic of China ...
Wang J, Yu C, Xu Y, Chen Z, Qiu W, Chen S, Pei H, Zhong Y   +7 more
doaj  

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

npj Genomic Medicine, 2023
Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies.
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore   +16 more
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Host-selected mutations converging on a global regulator drive an adaptive leap towards symbiosis in bacteria [PDF]

, 2017
Host immune and physical barriers protect against pathogens but also impede the establishment of essential symbiotic partnerships. To reveal mechanisms by which beneficial organisms adapt to circumvent host defenses, we experimentally evolved ...
Cooper, Vaughn S., Coyle, Matthew, Donner, Rachel A., Foxall, Randi L., Pankey, Molly Sabrina, Perry, Lauren A., Schuster, Brian M., Ster, Ian M., Whistler, Cheryl A.   +8 more
core   +3 more sources

Optoelectronic Synaptic Devices Using Molecular Telluride Phase‐Change Inks for Three‐Factor Learning

Advanced Functional Materials, EarlyView.
Optoelectronic synaptic devices based on solution‐processed molecular telluride GST‐225 phase‐change inks are demonstrated for three‐factor learning. A global optical signal broadcast through a silicon waveguide induces non‐volatile conductance updates exclusively in locally electrically flagged memristors.
Kevin Portner, Dhananjeya Kumaar, Giacomo Torti, Killian Keller, Till Zellweger, Florian M. Schenk, Christoph Weilenmann, Daniel Chelladurai, Vara Prasad Jonnalagadda, Ghazi Sarwat Syed, Vanessa Wood, Jürg Leuthold, Alexandros Emboras, Maksym Yarema, Mathieu Luisier   +14 more
wiley   +1 more source

Carbapenemase- and Colistin Resistant Escherichia coli Strains from Children in China: High Genetic Diversity and First Report of blaNDM-5, blaCTX-M-65, blaOXA-10, blaTEM-1, and mcr-1.1 Genes Co-Occurrence in E. coli ST156

Infection and Drug Resistance, 2022
Xiucai Zhang,1 Chao Fang,1 Junfeng Zhang,1 Wang Hua,2 Rong He,1 Mingming Zhou1 1Department of Clinical Laboratory, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, People’s ...
Zhang X, Fang C, Zhang J, Hua W, He R, Zhou M   +5 more
doaj  

Whole-Genome Sequencing as Tool for Investigating International Tuberculosis Outbreaks: A Systematic Review

Frontiers in Public Health, 2019
Background: Whole-genome sequencing (WGS) can support the investigation of tuberculosis (TB) outbreaks. The technique has been applied to estimate the timing and directionality of transmission and to exclude cases from an investigation.
Marieke J. van der Werf, Csaba Ködmön
doaj   +1 more source

Budućnost cjelogenomskog sekvenciranja u pedijatriji

Liječnički vjesnik, 2023
Sekvenciranje cijeloga genoma (eng. Whole genome sequencing – WGS) postaje sve zastupljeniji genetički dijagnostički test u svakodnevnoj kliničkoj praksi. Inicijativa za medicinski genom (eng.
Petar Brlek, Dragan Primorac
doaj   +1 more source

Structuring Pt/CeO2/Al2O3 WGS catalyst: Introduction of buffer layer [PDF]

, 2017
This work is devoted to the development of novel structured catalytic system for WGS reaction. The new concept is related to the presence of a pre-catalytic “buffer” layer formed by WGS-inert oxide, i.e.
Centeno Gallego, Miguel Ángel, González Castaño, Míriam, Ivanova, Svetlana, Laguna Espitia, Oscar Hernando, Martínez Tejada, Leidy Marcela, Odriozola Gordón, José Antonio   +5 more
core   +1 more source