نتایج جستجو برای: single nucleotide polymorphisms snps

تعداد نتایج: 992379  

Journal: :Journal of Multivariate Analysis 2021

For a high dimensional linear model with finite number of covariates measured errors, we study statistical inference on the parameters associated error-prone covariates, and propose new corrected decorrelated score test corresponding type estimator. This work was motivated by real data example, where both low phenotypic variables genotypic variables, single nucleotide polymorphisms (SNPs), are ...

Journal: :Journal of Bangladesh Academy of Sciences 2023

Circadian rhythm is a natural physiological process that regulates the sleep-wake cycle and occurs about every 24 hours. The fundamental molecular clock, NPAS2 (Neuronal PAS Domain Protein 2), generates mammalian circadian rhythms. Various diseases have been linked to single nucleotide polymorphisms (SNPs) in NPAS2. In this study, several computational approaches employed predict SNPs' function...

Journal: :Acta Universitatis Lodziensis 2021

Polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) is a technique used to identify single nucleotide polymorphisms (SNPs) based on the recognition of restriction sites by enzymes. RFLP-PCR an easy-to-perform and inexpensive tool for initial analysis SNPs potentially associated with some monogenic diseases, as well in genotyping, genetic mapping, lineage screening, for...

Journal: :Acta epileptologica 2023

Abstract Background The relationship between serum copper and epilepsy has been elucidated in observational studies. In this study, we aimed to explore the causal using Mendelian randomization (MR) analysis. Methods Single nucleotide polymorphisms (SNPs) associated with were used as instrumental variables for MR analysis evaluate their effects on epilepsy. main results obtained by inverse varia...

Journal: :Stats 2023

Sequencing-based genetic association analysis is typically performed by first generating genotype calls from sequence data and then performing tests on the called genotypes. Standard approaches require accurate calling (GC), which can be achieved either with high sequencing depth (typically available in a small number of individuals) or via computationally intensive multi-sample linkage disequi...

Journal: :Plant and Cell Physiology 2021

Abstract Rapeseed (Brassica napus L.) is a typical polyploid crop and one of the most important oilseed crops worldwide. With rapid progress on high-throughput sequencing technologies reduction in cost, large-scale genomic data specific have become available. However, raw sequence are mostly deposited read archive National Center Biotechnology Information European Nucleotide Archive, which free...

Journal: :CoRR 2014
Travis Gagie

Single-nucleotide polymorphisms (SNPs) account for most variations between human genomes. We show how, if the genomes in a database differ only by a reasonable number of SNPs and the substrings between those SNPs are unique, then we can store a fast compressed suffix array for that database.

2015
Luis Alberto Henríquez-Hernández Almudena Valenciano María Jesús Álvarez-Cubero José Manuel Cozar José Francisco Suárez-Novo Manel Castells-Esteve Pablo Fernández-Gonzalo Belén De-Paula-Carranza Montse Ferrer Ferrán Guedea Gemma Sancho-Pardo Jordi Craven-Bartle María José Ortiz-Gordillo Patricia Cabrera-Roldán Juan Ignacio Rodríguez-Melcón Estefanía Herrera-Ramos Carlos Rodríguez-Gallego Pedro C. Lara

Background. Prostate cancer (PCa) is an androgen-dependent disease. Nonetheless, the role of single nucleotide polymorphisms in genes encoding androgen metabolism remains an unexplored area. Purpose. To investigate the role of germ-line variations in cytochrome P450 17A1 (CYP17A1), steroid-5-reductase, -polypeptide 1 and 2 (SRD5A1, SRD5A2) genes in PCa. Patients and Methods. 494 consecutive S...

2011
Kyung Lim Yoon Jin Hee Ko Kye Shik Shim Mi Young Han Sung Ho Cha Su Kang Kim Joo Ho Jung

PURPOSE Hyperhomocysteinemia is known as a risk factor for atherosclerosis. Preclinical arteriosclerosis is noted and premature atherosclerosis is known to be accelerated in Kawasaki disease (KD) patients. Genetic polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene result in elevated plasma homocysteine concentrations and are known to be associated with the development of...

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