From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

The genetics of stress-related disorders: PTSD, depression, and anxiety disorders

JW Smoller - Neuropsychopharmacology, 2016 - nature.com
Research into the causes of psychopathology has largely focused on two broad etiologic
factors: genetic vulnerability and environmental stressors. An important role for …

[HTML][HTML] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …

[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

MH Chen, LM Raffield, A Mousas, S Sakaue… - Cell, 2020 - cell.com
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …

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 …

Role of circulating polyunsaturated fatty acids on cardiovascular diseases risk: analysis using Mendelian randomization and fatty acid genetic association data from …

MC Borges, PC Haycock, J Zheng, G Hemani… - BMC medicine, 2022 - Springer
Background Despite early interest in the health effects of polyunsaturated fatty acids (PUFA),
there is still substantial controversy and uncertainty on the evidence linking PUFA to …

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 …

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 …

Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning

Y Liu, N Basty, B Whitcher, JD Bell, EP Sorokin… - Elife, 2021 - elifesciences.org
Cardiometabolic diseases are an increasing global health burden. While socioeconomic,
environmental, behavioural, and genetic risk factors have been identified, a better …