Results 181 to 190 of about 9,152,726 (291)

Simulation for long read sequencers

, 2022
openaire   +1 more source

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China. [PDF]

Mol Genet Genomic Med
Li Y, Hou F, Shan S, Peng Y, Jin H.
europepmc   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang, Mengna Zhang, Yangyang Wang, Xiuyu Shi, Baoguang Li, Xiuxia Wang, Dan Sun, Sanqing Xu, Jianbo Zhao, Lijun Du, Qiming Pang, Xiaoming Liu, Chunhui Tang, Xiaohua Li, Jiuwei Li, Yanli Ma, Jianxiang Liao, Gulixian Abudureyimu, Jianmin Liang, Yuan Wang, De Wu, Jian Wu, Liping Zou   +22 more
wiley   +1 more source

Protocol for Designing and Interpreting Minigene Assays to Validate Candidate Splice-Altering Variants Using Long-read Sequencing. [PDF]

Curr Protoc
Whitford W, Musgrave SM, Snell RG, Jacobsen JC.   +3 more
europepmc   +1 more source

Four‐Year Cognitive Outcomes in Multiple Sclerosis: Associations With Lesion Myelin Integrity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Cognitive impairment is prevalent in patients with multiple sclerosis (MS) but whether lesion myelin integrity influences future cognitive outcomes remains unclear. We investigated the relationship between baseline lesion myelin water fraction (MWF) and cognitive performance 4 years later.
Iliana Pliska‐Bloch, Hannah Schwartz, Kimberly H. Markowitz, Abhishek Jaywant, Christopher D. Hildenbrand, Jai Perumal, Ulrike W. Kaunzner, Thanh D. Nguyen, Sandra Hurtado Rúa, Susan A. Gauthier   +9 more
wiley   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing. [PDF]

Clin Genet
Juul TM, Boonen SE, Pedersen KV, Bækgaard CH, Larsen M, Kibæk M, Illum N, Heideman M, Nielsen C, Lester EB, Fagerberg C.   +10 more
europepmc   +1 more source

Controlling Grain Growth in Powder Bed Fusion of Yttria‐Stabilized Zirconia Using Femtosecond Lasers: Challenges and Methodological Insights

Advanced Engineering Materials, EarlyView.
Binder‐free laser powder bed fusion of 8YSZ with a femtosecond laser is used to map process windows linking scan strategy, heat accumulation, and grain growth. Time‐resolved thermography and simulations reveal thermal regimes that enable continuous, vitrified, and fine‐grained 8YSZ surface layers without absorptive additives and demonstrate ...
Markus Kühn, Sarah Kaden, Andrea Barz, Daniel Störzner, Jens Bliedtner, Andrés Fabián Lasagni   +5 more
wiley   +1 more source

Untangling the Copy Number Variation at the Basis of Belted Phenotypes in Cattle Using Long-Read Sequencing. [PDF]

Anim Genet
Hogers RAH, Bosse M, Rattink AP, González-Prendes R, Gòdia M, Laport K, Groenen MAM, Crooijmans RPMA, Bouwman AC.   +8 more
europepmc   +1 more source

3D‐Printed Titanium Gyroid Scaffold Structure Integrated With Tough Hybrid Materials for Cartilage Replacement

Advanced Engineering Materials, EarlyView.
This study proposes a potential device design for joint cartilage replacement. Silica‐polytetrahydrofuran (SiO2‐PolyTHF) hybrids with customizable mechanical properties were developed to mimic the characteristics of a natural meniscus. These were synthesized through a two‐pot sol–gel hybrid process.
Yu‐Chien Lin, Gloria R. Young, Francesca Tallia, Reece N. Oosterbeek, Shaaz Ghouse, Edward Spiers, Nupur Kohli, Tom Briggs, Marc Masen, Siwei Li, Ren‐Jei Chung, Jonathan R. T. Jeffers, Julian R. Jones   +12 more
wiley   +1 more source

ReadChop: a high-performance demultiplexer for long-read sequencing data. [PDF]

Bioinformatics
Jiang C, Xiong Y.
europepmc   +1 more source