Polygenic Scores for Cognitive Abilities and Their Association with Different Aspects of General Intelligence—A Deep Phenotyping Approach
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Neurobiology"
DOI: 10.1007/s12035-021-02398-7
Abstract: Intelligence is a highly polygenic trait and genome-wide association studies (GWAS) have identified thousands of DNA variants contributing with small effects. Polygenic scores (PGS) can aggregate those effects for trait prediction in independent samples. As… read more here.
Keywords: intelligence; polygenic scores; scores cognitive; pgs ... See more keywords
Deep phenotyping reveals CRH and FKBP51-dependent behavioral profiles following chronic social stress exposure in male mice
Sign Up to like & getrecommendations! Published in 2024 at "Neuropsychopharmacology"
DOI: 10.1038/s41386-024-02008-9
Abstract: The co-chaperone FKBP51, encoded by FKBP5 gene, is recognized as a psychiatric risk factor for anxiety and depressive disorders due to its crucial role in the stress response. Another key modulator in stress response regulation… read more here.
Keywords: reveals crh; phenotyping; stress; deep phenotyping ... See more keywords
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-01053-1
Abstract: Purpose To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.… read more here.
Keywords: 3q29 deletion; deletion; phenotyping 3q29; deep phenotyping ... See more keywords
Deep phenotyping the right ventricle to establish translational MRI biomarkers for characterization of adaptive and maladaptive states in pulmonary hypertension
Sign Up to like & getrecommendations! Published in 2024 at "Scientific Reports"
DOI: 10.1038/s41598-024-79029-3
Abstract: Deep phenotyping the right ventricle (RV) is essential for understanding the mechanisms of adaptive and maladaptive RV responses to pulmonary hypertension (PH). In this study, feature selection coupled with machine learning classification/ranking of specific cardiac… read more here.
Keywords: mri; right ventricle; phenotyping right; deep phenotyping ... See more keywords
FlyVISTA, an integrated machine learning platform for deep phenotyping of sleep in Drosophila
Sign Up to like & getrecommendations! Published in 2025 at "Science Advances"
DOI: 10.1126/sciadv.adq8131
Abstract: There is great interest in using genetically tractable organisms such as Drosophila to gain insights into the regulation and function of sleep. However, sleep phenotyping in Drosophila has largely relied on simple measures of locomotor… read more here.
Keywords: learning platform; phenotyping sleep; deep phenotyping; machine learning ... See more keywords
Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Ophthalmology"
DOI: 10.1177/11206721241247676
Abstract: Introduction Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder originated by disease-causing variants in ABCC6 gene. The purpose of this study was to characterize the genetic landscape, phenotypic spectrum and genotype-phenotype correlations in a… read more here.
Keywords: pseudoxanthoma elasticum; mutational spectrum; spectrum; deep phenotyping ... See more keywords
Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases
Sign Up to like & getrecommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-024-03367-8
Abstract: Phenotypes play a fundamental role in medical genetics, serving as external manifestations of underlying genotypes. Deep phenotyping, a cornerstone of precision medicine, involves precise multi-system phenotype assessments, facilitating disease subtyping and genetic understanding. Despite their… read more here.
Keywords: genetics; deep phenotyping; bone diseases; rare bone ... See more keywords
Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Autism"
DOI: 10.1186/s13229-022-00492-8
Abstract: Background Repetitive action, resistance to environmental change and fine motor disruptions are hallmarks of autism spectrum disorder (ASD) and other neurodevelopmental disorders, and vary considerably from individual to individual. In animal models, conventional behavioral phenotyping… read more here.
Keywords: reveals movement; cntnap2 knockouts; deep phenotyping; phenotyping reveals ... See more keywords
Clinical Deep Phenotyping of ABCA7 Mutation Carriers
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000655
Abstract: Background and Objectives Putative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation carriers is limited. We aimed to obtain deep clinical phenotypes… read more here.
Keywords: plof mutation; mutation carriers; abca7 plof; deep phenotyping ... See more keywords
Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201321
Abstract: A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She… read more here.
Keywords: deep phenotyping; ussler scheinker; eye movements; gerstmann str ... See more keywords
Knowledge discovery for Deep Phenotyping serious mental illness from Electronic Mental Health records
Sign Up to like & getrecommendations! Published in 2018 at "F1000Research"
DOI: 10.12688/f1000research.13830.2
Abstract: Background: Deep Phenotyping is the precise and comprehensive analysis of phenotypic features in which the individual components of the phenotype are observed and described. In UK mental health clinical practice, most clinically relevant information is… read more here.
Keywords: symptomatology; phenotyping serious; serious mental; deep phenotyping ... See more keywords