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Article
Open AccessRecent advances in polygenic scores: translation, equitability, methods and FAIR tools
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals’ genetic predisposition to disease, and many potentially clinically useful applications have been proposed. Here, we review...
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Article
Open AccessThe Ontology of Biological Attributes (OBA)—computational traits for the life sciences
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic tr...
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Article
Open AccessA standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog
The accurate description of ancestry is essential to interpret, access, and integrate human genomics data, and to ensure that these benefit individuals from all ancestral backgrounds. However, there are no est...
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Article
Open AccessThe application of selective reaction monitoring confirms dysregulation of glycolysis in a preclinical model of schizophrenia
Establishing preclinical models is essential for novel drug discovery in schizophrenia. Most existing models are characterized by abnormalities in behavioral readouts, which are informative, but do not necessa...
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Article
The Methylazoxymethanol Acetate (MAM-E17) Rat Model: Molecular and Functional Effects in the Hippocampus
Administration of the DNA-alkylating agent methylazoxymethanol acetate (MAM) on embryonic day 17 (E17) produces behavioral and anatomical brain abnormalities, which model some aspects of schizophrenia. This ha...
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Article
Open AccessThe role of proteomics in depression research
Depression is a severe neuropsychiatric disorder affecting approximately 10% of the world population. Despite this, the molecular mechanisms underlying the disorder are still not understood. Novel technologies...
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Article
Open AccessGene expression in the prefrontal cortex during adolescence: implications for the onset of schizophrenia
Many critical maturational processes take place in the human brain during postnatal development. In particular, the prefrontal cortex does not reach maturation until late adolescence and this stage is associat...
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Article
Open AccessMetabolic changes in schizophrenia and human brain evolution
Despite decades of research, the molecular changes responsible for the evolution of human cognitive abilities remain unknown. Comparative evolutionary studies provide detailed information about DNA sequence an...
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Article
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inact...
