To study genotype- phenotype associations
Genotype Phenotype Associations in a Nonmodel Prokaryote
... Genotype-Phenotype Associations in a Nonmodel Prokaryote Mark Enstrom, Kiara Held, Beth Ramage, Mitchell Brittnacher, Larry Gallagher, and Colin Manoil Department of Genome Sciences, University of ...
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Associations between the phenotype and genotype of MnSOD and catalase in periodontal disease
... this study, salivary MnSOD and catalase were signifi- cantly reduced after treatment, and an interaction be- tween the genotype and phenotype of MnSOD was observed in the PD treatment ...recent ...
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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
... Conclusion This study describe the correlation between PAH genotyping and BH4 loading test in 364 French phenylke- tonuria patients. We report here that 46 genotypes and five mutations, whose BH4-responsiveness ...
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Genotype Phenotype Associations in 72 Adults with Suspected ALPL Associated Hypophosphatasia
... Human and Animal Rights and Informed Consent All procedures per- formed in this study were in accordance with the Declaration of Hel- sinki and approved by the local ethics committee (WF-055/19). Open Access This ...
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Improved Prediction of Bacterial Genotype-Phenotype Associations Using Interpretable Pangenome-Spanning Regressions.
... microbial genotype to phenotype has generally been approached by genome-wide association study (GWAS) methods ...a phenotype and a single variant, evaluate this association while accounting ...
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Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record
... the study was anticipated to be underpowered to assess many of the analyses attempted, given the prevalence of the diseases of interest in the first 10,000 samples ...these associations could be impor- tant ...
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DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning.
... into genotype-phenotype associations: The DeepWAS approach To enable the integration of regulatory information into the classical GWAS setting, regulatory information on a single SNP level is ...
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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
... of genotype- phenotype association ...further genotype-phenotype ...present study is to develop an open web-based registry of genotype-phenotype asso- ciations derived ...
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DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning
... In order to integrate regulatory information into the classical GWAS approach, knowledge of regulatory information on a single SNP level is required. To retrieve a set of regulatory SNPs with effects on cell ...
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Genotype-phenotype Correlations in Darier Disease - a Focus on the Neuropsychiatric Phenotype
... current study we investigated potential correlations between mutation type (LGD vs PA) and neuropsychiatric phenotypes among 75 unrelated individuals with ...such study to ...examining genotype- ...
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Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype
... current study we investigated potential correlations between mutation type (LGD vs PA) and neuropsychiatric phenotypes among 75 unrelated individuals with ...such study to ...examining genotype- ...
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Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease.
... a genotype × disease (G×D) interaction ...this study, the marginal effect of genotype on ...this study was the relatively modest sample sizes, and we highlight that we used a 15% FDR for the ...
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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?
... of genotype-phenotype associations in NF1 is potentially useful for targeted therapeutic intervention but has generally been unsuccessful, apart from small subsets of molecularly defined ...this ...
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A surrogate marker of piperaquine-resistant Plasmodium falciparum malaria: a phenotype genotype association study
... test. Associations between a cumulative risk of failure at day 42 and molecular signatures associated with piperaquine resistance were assessed by survival ...
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A General Population-Genetic Model for the Production by Population Structure of Spurious Genotype–Phenotype Associations in Discrete, Admixed or Spatially Distributed Populations
... rious associations, assuming that sample sizes are large enough that all associations, real and spurious, are ...our study concerns the level of spurious association in population-genetic models and ...
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Development of a Research Platform for Dissecting Phenotype–Genotype Associations in Rice (Oryza spp.)
... 2010). This model-based genotype-calling algorithm does not depend on ad hoc or generalized clustering methods and can accept a priori specified inbreeding coefficients. This allows the method to make adjustments ...
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Epigenetics: reality or fiction? Phenotype determined by the genotype and genotype determined by the Phenotype.
... Somehow there are whole circuits, integral, between the genetic material and the molecular changes of the behavior, so with the personality characters, feed and feedback circuits which[r] ...
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A Genotype - Phenotype Study of Childhood Onset Retinal Dystrophies
... similar phenotype has been described by a number of other authors [258, ...one study did patients predominantly have a hypermetropic refractive error ...this study began, no reports of human TUB ...
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Lesson Plan: GENOTYPE AND PHENOTYPE
... Some aspects of middle-school student understanding should be noted. This period of development in youth lends itself to human biology. Now is the time to begin the study of genetic traits (i.e. what offspring get ...
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Genotype-phenotype correlations in FSHD
... The phenomenon of anticipation is well known in the so-called “trinucleotide repeat expansion disorders”, for example, myotonic dystrophy. In this case, mutations are dynamic and a gradual increase in the number of ...
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