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   Articles with "genotypes phenotypes" as a keyword



An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases

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recommendations! Published in 2024 at "Human Genetics"

DOI: 10.1007/s00439-023-02638-x

Abstract: Identifying disease-causing variants in Rare Disease patients’ genome is a challenging problem. To accomplish this task, we describe a machine learning framework, that we called “Suggested Diagnosis”, whose aim is to prioritize genetic variants in… read more here.

Keywords: yield; based approach; approach driven; diagnostic yield ... See more keywords
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Distinct genotypes and phenotypes in European and American strains of Drosophila suzukii: implications for biology and management of an invasive organism

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recommendations! Published in 2019 at "Journal of Pest Science"

DOI: 10.1007/s10340-019-01172-y

Abstract: A clearer understanding of the structure of pest populations in newly invaded areas is a key step towards their effective management. Here, we use Drosophila suzukii as a model to highlight how populations from separate… read more here.

Keywords: drosophila suzukii; distinct genotypes; management; biology ... See more keywords

Computational resources associating diseases with genotypes, phenotypes and exposures

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recommendations! Published in 2019 at "Briefings in Bioinformatics"

DOI: 10.1093/bib/bby071

Abstract: Abstract The causes of a disease and its therapies are not only related to genotypes, but also associated with other factors, including phenotypes, environmental exposures, drugs and chemical molecules. Distinguishing disease-related factors from many neutral… read more here.

Keywords: associating diseases; computational resources; phenotypes exposures; resources associating ... See more keywords

Inference Attacks and Controls on Genotypes and Phenotypes for Individual Genomic Data

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recommendations! Published in 2020 at "IEEE/ACM Transactions on Computational Biology and Bioinformatics"

DOI: 10.1109/tcbb.2018.2810180

Abstract: The rapid growth of DNA-sequencing technologies motivates more personalized and predictive genetic-oriented services, which further attract individuals to increasingly release their genome information to learn about personalized medicines, disease predispositions, genetic compatibilities, etc. Individual genome… read more here.

Keywords: inference; genotypes phenotypes; inference attacks; attacks controls ... See more keywords

Genotypes and phenotypes of DNM1 encephalopathy

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recommendations! Published in 2023 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2023-109233

Abstract: Background Variants in the dynamin-1 (DNM1) gene typically cause synaptopathy, leading to developmental and epileptic encephalopathy (DEE). We aimed to determine the genotypic and phenotypic spectrum of DNM1 encephalopathy beyond DEE. Methods Electroclinical phenotyping and… read more here.

Keywords: genotypes phenotypes; phenotypes dnm1; dnm1 encephalopathy; gtpase ... See more keywords

Aldosterone-Producing Adenomas: Genotypes and Phenotypes.

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recommendations! Published in 2017 at "Hypertension"

DOI: 10.1161/hypertensionaha.117.09161

Abstract: See related article, pp 129–136 Primary aldosteronism (PA), which can be detected by aldosterone-to-renin ratio in its great majority, has come to be conceived as the most frequent form of secondary hypertension constituting ≈5% to… read more here.

Keywords: aldosterone producing; hypertension; adenomas genotypes; producing adenomas ... See more keywords

Genotypes and phenotypes of resistance in Ecuadorian Plasmodium falciparum

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recommendations! Published in 2019 at "Malaria Journal"

DOI: 10.1186/s12936-019-3044-z

Abstract: BackgroundMalaria continues to be endemic in the coast and Amazon regions of Ecuador. Clarifying current Plasmodium falciparum resistance in the country will support malaria elimination efforts. In this study, Ecuadorian P. falciparum parasites were analysed… read more here.

Keywords: falciparum; plasmodium falciparum; resistance; mefloquine dihydroartemisinin ... See more keywords

Private Genomes and Public SNPs: Homomorphic Encryption of Genotypes and Phenotypes for Shared Quantitative Genetics.

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recommendations! Published in 2020 at "Genetics"

DOI: 10.1534/genetics.120.303153

Abstract: Mott et al. show that association between a quantitative trait and genotype can be performed using data that has been transformed by first rotating it in a high-dimensional space. The resulting... Sharing human genotype and… read more here.

Keywords: genetics; genotype; encryption; genetics private ... See more keywords

Association of Diverse Genotypes and Phenotypes of Immune Cells and Immunoglobulins With the Course of HIV-1 Infection

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recommendations! Published in 2018 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2018.02735

Abstract: Disease progression among HIV-1–infected individuals varies widely, but the mechanisms underlying this variability remains unknown. Distinct disease outcomes are the consequences of many factors working in concert, including innate and adaptive immune responses, cell-mediated and… read more here.

Keywords: hiv infection; association diverse; immune cells; diverse genotypes ... See more keywords

Potential pathogenic and protective genotypes and phenotypes of vitamin D binding protein in multiple sclerosis

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recommendations! Published in 2025 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2025.1455779

Abstract: Background The main carrier protein of vitamin D and its metabolites in plasma is vitamin D binding protein (VDBP) or group-specific component (Gc). Two single nucleotide polymorphisms, rs7041, and rs4588 in the GC gene result… read more here.

Keywords: multiple sclerosis; gc3; genotypes phenotypes; gc2 ... See more keywords

Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations

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recommendations! Published in 2021 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2021.664449

Abstract: Aim: MEF2C haploinsufficiency syndrome (MCHS) is a severe neurodevelopmental disorder. We describe the clinical phenotypes and genotypes of seven patients with MCHS to enhance the understanding of clinical manifestations and genetic alterations associated with MCHS.… read more here.

Keywords: patients exhibited; mef2c haploinsufficiency; haploinsufficiency syndrome; genotypes phenotypes ... See more keywords