Results 71 to 80 of about 510,619 (336)

Beyond the SNP threshold: identifying outbreak clusters using inferred transmissions

bioRxiv, 2018
Whole genome sequencing (WGS) is increasingly used to aid the understanding of pathogen transmission. A first step in analysing WGS data is usually to define “transmission clusters”, sets of cases that are potentially linked by direct transmission.
J. Stimson, J. Gardy, B. Mathema, V. Crudu, T. Cohen, C. Colijn   +5 more
semanticscholar   +1 more source

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

Magneto-optical imaging of the domain wall distortions enhanced by magnetic fields in amorphous glass-coated microwire

AIP Advances, 2023
Here, we employ time-resolved magneto-optical Kerr system (MOKE) imaging to ascertain the origin of domain wall motion in microwires. The MOKE visualisations of the domain walls motion on the surface of the microwires prove the domain wall pinning and ...
L. Fecova, R. Varga, K. Richter
doaj   +1 more source

Release of Monomers from Dental Composite Materials into Saliva and the Possibility of Reducing the Toxic Risk for the Patient

Medicina, 2023
Background and Objectives: The objective of this study was (1) to measure the amount of monomers released into the saliva depending on the time elapsed after the hardening of the composite and on the type of monomer used; and (2) with the prolongation of
Soňa Tkáčiková, Ján Sabo
doaj   +1 more source

Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics

PLoS Comput. Biol., 2016
Integrating single nucleotide polymorphism (SNP) p-values from genome-wide association studies (GWAS) across genes and pathways is a strategy to improve statistical power and gain biological insight. Here, we present Pascal (Pathway scoring algorithm), a
D. Lamparter, D. Marbach, R. Rueedi, Z. Kutalik, S. Bergmann   +4 more
semanticscholar   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Oxidative Stress and the Nrf2/PPARγ Axis in the Endometrium: Insights into Female Fertility

Cells
Successful pregnancy depends on precise molecular regulation of uterine physiology, especially during the menstrual cycle. Deregulated oxidative stress (OS), often influenced by inflammatory changes but also by environmental factors, represents a ...
Peter Artimovič, Zuzana Badovská, Silvia Toporcerová, Ivana Špaková, Lukáš Smolko, Gabriela Sabolová, Eva Kriváková, Miroslava Rabajdová   +7 more
doaj   +1 more source

A high-throughput SNP discovery strategy for RNA-seq data

BMC Genomics, 2019
Single nucleotide polymorphisms (SNP) have been applied as important molecular markers in genetics and breeding studies. The rapid advance of next generation sequencing (NGS) provides a high-throughput means of SNP discovery.
Yun Zhao, Ke Wang, Wen-li Wang, Ting-ting Yin, Wei-qi Dong, Chang-jie Xu   +5 more
semanticscholar   +1 more source

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls [PDF]

Nature Biotechnology, 2013
Clinical adoption of human genome sequencing requires methods that output genotypes with known accuracy at millions or billions of positions across a genome.
J. Zook, B. Chapman, Jason Wang, D. Mittelman, Oliver M. Hofmann, Winston A Hide, M. Salit   +6 more
semanticscholar   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source