Results 191 to 200 of about 5,748,368 (263)

VCboost: reducing false positives in long-read variant calling for single-nucleotide polymorphism and indel detection in challenging genomic regions. [PDF]

Brief Bioinform
Zhang Y, Chen H, Liu X, He P, Dai Q.
europepmc   +1 more source

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

ESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu, Gui‐Qin Liu, Ya‐Ping Peng, Li‐Ling Zhang, Xian‐Jin Wang, Liang‐Chuan Chen, Yuan‐Xi Zheng, Xue‐Jun Xiang, Rui Qiao, Xian‐He Lin   +9 more
wiley   +1 more source

Clinical Impact of a LAG3 Single-Nucleotide Polymorphism in Relapsed, Refractory DLBCL Patients Treated with Glofitamab. [PDF]

Cancers (Basel)
Ullmann M, Seipel K, Nilius H, Bertschinger M, Rentsch V, Bacher U, Pabst T.   +6 more
europepmc   +1 more source

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

Epileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger, Lotte Noorlag, Willem M. Otte, Maeike Zijlmans, Rosalie L. Neijzen, Sandra M. A. van der Salm, Floor E. Jansen, Kees P. J. Braun, Eric van Diessen   +8 more
wiley   +1 more source

Single nucleotide polymorphism information estimates breed and variety composition ratio in food. [PDF]

Curr Res Food Sci
Tan CE, Tagkopoulos I.
europepmc   +1 more source

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Epilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch, Nils Hartung, Robin A. Karge, Bobby Koeleman, Samuel F. Berkovic, Danielle M. Andrade, Francesca Bisulli, Antonio Gambardella, Renzo Guerrini, Ingrid E. Scheffer, Ingo Helbig, Wolfram S. Kunz, Holger Lerche, Hiltrud Muhle, Christian Boßelmann, Savvas S. Papacostas, Mark I. Rees, Sanjay M. Sisodiya, Pasquale Striano, Lynnette Sadleir, Yvonne Weber, Dennis Lal, Costin Leu, Philipp S. Reif, Stefan Wolking, Felix Rosenow, Karl Martin Klein, for the Epi25 Collaborative   +27 more
wiley   +1 more source

Systematic Evaluation and Application of Single-Nucleotide Polymorphism-Based Genotyping Methods in Varicella-Zoster Virus Molecular Epidemiology Surveillance - China, 2017-2026. [PDF]

China CDC Wkly
Guo J, Zhu Z, Mao N, Wang H, Chen J, Li H, Cao L, Wang S, Fan L, Zhang H, Wang L, Wang W, Chen X, Li F, Huang J, Guo H, Li L, Zhang H, Feng D, Zhang Y.   +19 more
europepmc   +1 more source

Deep whole genome sequencing of epileptogenic brain lesions

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann, Costin Leu, Lucas Hoffmann, Roland Coras, Katja Kobow, Hajo Hamer, Daniel Delev, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Kerstin Becker, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal   +17 more
wiley   +1 more source

Transmission Ratio Distortion Detection Using Microsatellite and Single Nucleotide Polymorphism Markers in Hanwoo of Gyeongnam Province. [PDF]

Anim Genet
Kim JY, Kang HC, Myung CH, Lim HT.
europepmc   +1 more source

Gut‐microbiota‐brain Axis and post‐traumatic epilepsy

Epilepsia Open, EarlyView.
Abstract There has been growing evidence that perturbations in gut‐microbiota‐brain axis (GMBA) are involved in mechanisms of chronic sequelae of traumatic brain injury (TBI). This review discusses the connection between GMBA and post‐traumatic epilepsy (PTE), the latter being a common outcome of TBI.
Andrey Mazarati
wiley   +1 more source