Results 151 to 160 of about 274,651 (250)

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

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han, Yuke Wang, Yixiong Dang, Rong Xiang, Yan Zeng, Sheng He, Ye Ju, Zilan Chen, Ting Liu, Zihao Li, Yuqi Pang, Wanyi Tan, Jue Xu, Jingwen Jiang, Xia Jiang   +14 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

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

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

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

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

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

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

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