[HTML][HTML] 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 …
associated with complex traits. These associations could reveal the molecular mechanisms …
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 …
Mapping the proteo-genomic convergence of human diseases
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …
[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
AR Harper, A Goel, C Grace, KL Thomson… - Nature …, 2021 - nature.com
Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …
[HTML][HTML] Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
H Hautakangas, BS Winsvold, SE Ruotsalainen… - Nature …, 2022 - nature.com
Migraine affects over a billion individuals worldwide but its genetic underpinning remains
largely unknown. Here, we performed a genome-wide association study of 102,084 …
largely unknown. Here, we performed a genome-wide association study of 102,084 …
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
Horizontal pleiotropy occurs when the variant has an effect on disease outside of its effect on
the exposure in Mendelian randomization (MR). Violation of the 'no horizontal …
the exposure in Mendelian randomization (MR). Violation of the 'no horizontal …
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians
Mendelian randomisation uses genetic variation as a natural experiment to investigate the
causal relations between potentially modifiable risk factors and health outcomes in …
causal relations between potentially modifiable risk factors and health outcomes in …
Heavy-tailed prior distributions for sequence count data: removing the noise and preserving large differences
Motivation In RNA-seq differential expression analysis, investigators aim to detect those
genes with changes in expression level across conditions, despite technical and biological …
genes with changes in expression level across conditions, despite technical and biological …