Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Genomics of disease risk in globally diverse populations
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
PRSice-2: Polygenic Risk Score software for biobank-scale data
SW Choi, PF O'Reilly - Gigascience, 2019 - academic.oup.com
Background Polygenic risk score (PRS) analyses have become an integral part of
biomedical research, exploited to gain insights into shared aetiology among traits, to control …
biomedical research, exploited to gain insights into shared aetiology among traits, to control …
Genetic analyses of diverse populations improves discovery for complex traits
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …
the biology of complex traits, drug development and clinical guidelines. However, the …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
[HTML][HTML] Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …
[HTML][HTML] Analysis of polygenic risk score usage and performance in diverse human populations
A historical tendency to use European ancestry samples hinders medical genetics research,
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
More than one in three adults worldwide is either overweight or obese. Epidemiological
studies indicate that the location and distribution of excess fat, rather than general adiposity …
studies indicate that the location and distribution of excess fat, rather than general adiposity …
[HTML][HTML] SynGO: an evidence-based, expert-curated knowledge base for the synapse
F Koopmans, P van Nierop, M Andres-Alonso… - Neuron, 2019 - cell.com
Synapses are fundamental information-processing units of the brain, and synaptic
dysregulation is central to many brain disorders (" synaptopathies"). However, systematic …
dysregulation is central to many brain disorders (" synaptopathies"). However, systematic …
[HTML][HTML] Leveraging polygenic functional enrichment to improve GWAS power
Functional genomics data has the potential to increase GWAS power by identifying SNPs
that have a higher prior probability of association. Here, we introduce a method that …
that have a higher prior probability of association. Here, we introduce a method that …