Results 61 to 70 of about 97,365 (285)

On the trail of SNPs [PDF]

Nature, 2003
Extracting useful data from the human genome sequence is a major challenge. Lisa Melton examines the early steps towards personal genotyping.
openaire   +2 more sources

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Development and Validation of Machine Learning‐Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease

Advanced Science, EarlyView.
This study constructs a stacked multimodal machine learning model for nonalcoholic fattly liver disease (NAFLD) by integrating genetic and clinical features, and synthesize an in‐silico quantitative marker (ISNLD) that enables personalized risk stratification for intrahepatic and extrahepatic outcomes of high‐risk individuals of NAFLD.
Lushan Xiao, Lin Zeng, Jiaren Wang, Chang Hong, Ziyong Zhang, Chengkai Wu, Hao Cui, Yan Li, Ruining Li, Shengxing Liang, Qijie Deng, Wenyuan Li, Xuejing Zou, Pengcheng Ma, Li Liu   +14 more
wiley   +1 more source

SNiPlay: a web-based tool for detection, management and analysis of SNP (C900) [PDF]

, 2011
The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale genetic diversity projects requires the development of integrated bioinformatics tools able to efficiently manage, analyze, and combine genetic data with the ...
Bacilieri, Roberto, Carrier, Gregory, Dereeper, Alexis, Doligez, Agnès, Le Cunff, Loïc, Nicolas, Stéphane, Péros, Jean-Pierre, Ruiz, Manuel, This, Patrice   +8 more
core  

Allelic variants of KLK2 gene predict presence of prostate cancer at biopsy [PDF]

, 2016
Objective: Several single nucleotide polymorphisms associated with prostate cancer risk have been reported in recent years. We evaluated polymorphisms in the human glandular kallikrein 2 (KLK2) genes because the protein product of this gene is known to ...
Bailey, Tracey, Nna, E. O., Tothill, Ibtisam E.   +2 more
core   +1 more source

Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT [PDF]

, 2020
Background The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility.
Ahmed, M, Cieza-Borrella, C, Eeles, R, Goh, C, Kote-Jarai, Z, PRACTICAL consortium, Saunders, E, Schumacher, FR   +7 more
core   +2 more sources

Integrating Dense Genotyping with High‐Throughput Phenotyping Empowers the Genetic Dissection of Berry Quality and Resilience Traits in Grapevine

Advanced Science, EarlyView.
Researchers develop advanced tools to study grapevine traits like berry quality and stress resilience. A 200K SNP array and high‐throughput phenotyping enable the identification of loci linked to berry shape, sugar content, acidity, and cold tolerance. Functional validation of genes such as NAC08 reveals roles in cold tolerance.
Yuyu Zhang, Yongjian Wang, Michael Henke, Pablo Carbonell‐Bejerano, Zemin Wang, Pierre‐François Bert, Yi Wang, Huayang Li, Junhua Kong, Peige Fan, Zhanwu Dai, Zhenchang Liang   +11 more
wiley   +1 more source

The Development of Quality Control Genotyping Approaches: A Case Study Using Elite Maize Lines. [PDF]

PLoS ONE, 2016
Quality control (QC) of germplasm identity and purity is a critical component of breeding and conservation activities. SNP genotyping technologies and increased availability of markers provide the opportunity to employ genotyping as a low-cost and robust
Jiafa Chen, Cristian Zavala, Noemi Ortega, Cesar Petroli, Jorge Franco, Juan Burgueño, Denise E Costich, Sarah J Hearne   +7 more
doaj   +1 more source

The Non‐Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism

Advanced Science, EarlyView.
The SNP rs2863002 at the 11p11.2 locus, identified through GWAS, is associated with an increased risk of neuroblastoma. The rs2863002‐C allele impairs the binding of the transcription factor GATA3, resulting in upregulation of the HSD17B12 gene.
Teresa Maiorino, Marianna Avitabile, Vincenzo Aievola, Annalaura Montella, Vito A. Lasorsa, Ferdinando Bonfiglio, Mariagrazia Cantalupo, Sueva Cantalupo, Gilda Estinto, Matilde Tirelli, Martina Morini, Martina Ardito, Alessandra Eva, Vincenza Cerbone, Lucia Mauriello, Marianna Caterino, Margherita Ruoppolo, John M. Maris, Sharon J. Diskin, Achille Iolascon, Mario Capasso   +20 more
wiley   +1 more source

Accounting for ALA Natural Mutations Enhances the Efficiency of Graphene Oxide Nanopriming in Bar‐Modified Arabidopsis

Advanced Science, EarlyView.
Nanopriming enhances plant resilience to environmental challenges; however, its effectiveness across diverse genetic backgrounds, including genetic modifications and natural variations, remains uncertain. These findings demonstrate that nanopriming improves efficacy when natural genetic variations are considered, particularly in genetically modified ...
Yining Wu, Rui Sun, Yueting Cui, Jun Qiao, Chengdong Zhang   +4 more
wiley   +1 more source