Phenome-wide association studies across large population cohorts support drug target validation [PDF]
Nature Communications, 2018 Testing the association between genetic variants and a range of phenotypes can assist drug development. Here, in a phenome-wide association study in up to 697,815 individuals, Diogo et al.
Dorothée Diogo +33 more
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Phenome-Wide Association Studies. [PDF]
JAMA, 2022 Genome-wide association studies (GWAS) have made clear that single-nucleotide variants (SNVs) that occur at multiple locations across the genome can be associated with a specific condition or trait, also known as a phenotype.
Bastarache L, Denny JC, Roden DM.
europepmc +7 more sources
HCLC-FC: A novel statistical method for phenome-wide association studies. [PDF]
PLoS ONE, 2022 The emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association studies (PheWAS).
Xiaoyu Liang +3 more
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CoPheScan: phenome-wide association studies accounting for linkage disequilibrium [PDF]
Nature Communications, 2023 Phenome-wide association studies (PheWAS) facilitate the discovery of associations between a single genetic variant with multiple phenotypes. For variants which impact a specific protein, this can help identify additional therapeutic indications or on ...
Ichcha Manipur +6 more
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Phenome-wide association studies between SERINC2 and neuropsychiatric disorders [PDF]
Frontiers in PsychiatryObjectivesSERINC2 has been associated with alcoholism, bipolar disorder and autism, but the comparability and specificity issues of the findings remain unaddressed.
Ping Liu +15 more
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A simulation study investigating power estimates in phenome-wide association studies [PDF]
BMC Bioinformatics, 2018 Background Phenome-wide association studies (PheWAS) are a high-throughput approach to evaluate comprehensive associations between genetic variants and a wide range of phenotypic measures.
Anurag Verma +6 more
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Functional genomic effects of indels using Bayesian genome-phenome wide association studies in sorghum [PDF]
Frontiers in Genetics, 2023 High-throughput genomic and phenomic data have enhanced the ability to detect genotype-to-phenotype associations that can resolve broad pleiotropic effects of mutations on plant phenotypes.
J. Lucas Boatwright +5 more
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Advancing allergic rhinitis research through phenome-wide association studies: Insights from known genetic loci [PDF]
World Allergy Organization JournalBackground: Allergic rhinitis (AR) is a common chronic respiratory disease that can lead to the development of various other conditions. Although genetic risk loci associated with AR have been reported, the connections between these loci and AR ...
Xingling Tan, MD +4 more
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Using phenome-wide association studies to examine the effect of environmental exposures on human health [PDF]
Environment International, 2019 The field of environmental epidemiology has been using “-omics” technologies, including the exposome, metabolome, and methylome, to understand the potential effects and biological pathways of a number of environmental pollutants. However, the majority of
Joseph M. Braun +3 more
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CADM2 is implicated in impulsive personality and numerous other traits by genome- and phenome-wide association studies in humans and mice. [PDF]
Transl Psychiatry, 2023 Impulsivity is a multidimensional heritable phenotype that broadly refers to the tendency to act prematurely and is associated with multiple forms of psychopathology, including substance use disorders.
Sanchez-Roige S +26 more
europepmc +2 more sources