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Genotype–Phenotype Association in ABCA4-Associated Retinopathy
Stargardt disease (STGD1) is the most common inherited retina degeneration. It is caused by biallelic ABCA4 variants, and no treatment is available...
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Increase in rotavirus prevalence with the emergence of genotype G9P[8] in replacement of genotype G12P[6] in Sabah, Malaysia
Rotaviruses are major causative agents of acute diarrhea in children under 5 years of age in Malaysia. However, a rotavirus vaccine has not been...
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Contribution of parasite and host genotype to immunopathology of schistosome infections
BackgroundThe role of pathogen genotype in determining disease severity and immunopathology has been studied intensively in microbial pathogens...
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Genotype × environment interactions in gene regulation and complex traits
Genotype × environment interactions (GxE) have long been recognized as a key mechanism underlying human phenotypic variation. Technological...
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Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of genome-wide association studies...
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Neither alpha-synuclein fibril strain nor host murine genotype influences seeding efficacy
Parkinson’s disease (PD) is a neurodegenerative disease characterized by progressive motor symptoms and alpha-synuclein (αsyn) aggregation in the...
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Characterisation of a Japanese Encephalitis virus genotype 4 isolate from the 2022 Australian outbreak
Human infections with the Japanese encephalitis virus (JEV) are a leading cause of viral encephalitis. An unprecedented outbreak of JEV genotype 4...
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FACS-Based Sequencing Approach to Evaluate Cell Type to Genotype Associations Using Cerebral Organoids
Recent technological developments have led to widespread applications of large-scale transcriptomics-based sequencing methods to identify...
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Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a sco** review
Recall by Genotype (RbG), Genotype-driven-recall (GDR), and Genotype-based-recall (GBR) strategies are increasingly used to conduct genomic or...
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Rubella virus genotype 2B endemicity and related utility of serum-based molecular characterization in Uganda
There are 13 globally recognized rubella virus genotypes of which only 2 (1E and 2B) have been detected recently. The largest percentage of all...
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Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes
Widely used genotype imputation methods are based on the Li and Stephens model, which assumes that new haplotypes can be represented by modifying...
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Cost-effectiveness analysis of CYP3A5 genotype-guided tacrolimus dosing in solid organ transplantation using real-world data
The objective of this study was to estimate the cost-effectiveness of CYP3A5 genotype-guided tacrolimus dosing in kidney, liver, heart, and lung...
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The analysis of the genotype of Sapovirus outbreaks in Zhejiang Province
BackgroundSapovirus (SaV) infection is increasing globally. Concurrently, several SaV-outbreaks were observed in children of Zhejiang province,...
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Severe fever with thrombocytopenia syndrome virus genotype B in Thailand
Severe fever with thrombocytopenia syndrome virus (SFTSV) has been reported in many countries in Southeast Asia, which expands the original...
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Public platform with 39,472 exome control samples enables association studies without genotype sharing
Acquiring a sufficiently powered cohort of control samples matched to a case sample can be time-consuming or, in some cases, impossible. Accordingly,...
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Genomic diversity of group A rotaviruses from wild boars and domestic pigs in Japan: wide prevalence of NSP5 carrying the H2 genotype
Group A rotavirus (RVA) sequences were detected in 10.8% (23/212) and 20.7% (87/421) of fecal samples collected in 2017-2022 from wild boars and...
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Ideal vitamin D and handgrip strength counteracts the risk effect of APOE genotype on dementia: a population-based longitudinal study
BackgroundHigher vitamin D concentrations and grip strength contribute to lower individual-level risk of dementia, while apolipoprotein 4 (APOE e4)...
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First report of Echinococcus granulosus genotype 1 in a wild boar (Sus scrofa) from China
Echinococcosis is a worldwide disease endemic to the western region of China. In 2023, echinococcosis was detected in one of 27 wild boars ( Sus scrofa ...
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Prevalence of cervicovaginal human papillomavirus infection and genotype distribution in Shanghai, China
BackgroundThe evaluation of human papillomavirus (HPV) prevalence rate dynamics and genotype distribution could support the adoption of more targeted...
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DeepGAMI: deep biologically guided auxiliary learning for multimodal integration and imputation to improve genotype–phenotype prediction
BackgroundGenotypes are strongly associated with disease phenotypes, particularly in brain disorders. However, the molecular and cellular mechanisms...
