Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Genomics of disease risk in globally diverse populations

D Gurdasani, I Barroso, E Zeggini… - Nature Reviews …, 2019 - nature.com
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
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 …

Genetic analyses of diverse populations improves discovery for complex traits

GL Wojcik, M Graff, KK Nishimura, R Tao, J Haessler… - Nature, 2019 - nature.com
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

[HTML][HTML] Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal… - Cell, 2019 - cell.com
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
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

L Duncan, H Shen, B Gelaye, J Meijsen… - Nature …, 2019 - nature.com
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 …

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

SL Pulit, C Stoneman, AP Morris… - Human molecular …, 2019 - academic.oup.com
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 …

[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 …

[HTML][HTML] Leveraging polygenic functional enrichment to improve GWAS power

G Kichaev, G Bhatia, PR Loh, S Gazal, K Burch… - The American Journal of …, 2019 - cell.com
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 …