Results 51 to 60 of about 197,703 (204)
A common and unstable copy number variant is associated with differences in Glo1 expression and anxiety-like behavior [PDF]
, 2015 Glyoxalase 1 (Glo1) has been implicated in anxiety-like behavior in mice and in multiple psychiatric diseases in humans. We used mouse Affymetrix exon arrays to detect copy number variants (CNV) among inbred mouse strains and thereby identified a ...
Borevitz, Justin O. +13 more
core +2 more sources
Privacy in the Genomic Era [PDF]
, 2015 Genome sequencing technology has advanced at a rapid pace and it is now possible to generate highly-detailed genotypes inexpensively. The collection and analysis of such data has the potential to support various applications, including personalized ...
Ayday, Erman +7 more
core +4 more sources
Phenome‐wide association studies: a new method for functional genomics in humans [PDF]
The Journal of Physiology, 2017 AbstractIn experimental physiological research, a common study design for examining the functional role of a gene or a genetic variant is to introduce that genetic variant into a model organism (such as yeast or mouse) and then to search for phenotypic consequences.
D. Roden
semanticscholar +3 more sources
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
BMC Cardiovascular Disorders, 2019 Background We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. Methods Published and individual participant level data (300,000+ participants)
Amand F. Schmidt +167 more
doaj +1 more source
Frontiers in Genetics, 2021 With the advances in genotyping technologies and electronic health records (EHRs), large biobanks have been great resources to identify novel genetic associations and gene-environment interactions on a genome-wide and even a phenome-wide scale.
Wenjian Bi +3 more
doaj +1 more source
Genetic factors regulating lung vasculature and immune cell functions associate with resistance to pneumococcal infection [PDF]
, 2004 Streptococcus pneumoniae is an important human pathogen responsible for high mortality and morbidity worldwide. The susceptibility to pneumococcal infections is controlled by as yet unknown genetic factors.
Jonczyk, Magda S. +7 more
core +5 more sources
Nature Communications, 2022 Observational studies have found overlap between Alzheimer’s disease and other diseases and phenotypes, although the causal relationships are unclear. Here, the authors perform an age-stratified phenome-wide association study of Alzheimer’s disease (AD ...
Roxanna Korologou-Linden +11 more
doaj +1 more source
Molecular Medicine, 2017 Biobanks and national registries represent a powerful tool for genomic discovery, but rely on diagnostic codes that can be unreliable and fail to capture relationships between related diagnoses.
Thomas H. McCoy +4 more
doaj +1 more source
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
core +2 more sources
Transcriptional Regulation: a Genomic Overview [PDF]
, 2002 The availability of the Arabidopsis thaliana genome sequence allows a comprehensive analysis of transcriptional regulation in plants using novel genomic approaches and methodologies. Such a genomic view of transcription first necessitates the compilation
Riechmann, José Luis
core +2 more sources