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 …
Graph pangenome captures missing heritability and empowers tomato breeding
Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …
analyses of complex biological traits,. The solution to this problem is to identify all causal …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches
Mendelian randomization and colocalization are two statistical approaches that can be
applied to summarized data from genome-wide association studies (GWASs) to understand …
applied to summarized data from genome-wide association studies (GWASs) to understand …
A genome-wide association study of serum proteins reveals shared loci with common diseases
A Gudjonsson, V Gudmundsdottir, GT Axelsson… - Nature …, 2022 - nature.com
With the growing number of genetic association studies, the genotype-phenotype atlas has
become increasingly more complex, yet the functional consequences of most disease …
become increasingly more complex, yet the functional consequences of most disease …
Probabilistic fine-mapping of transcriptome-wide association studies
Transcriptome-wide association studies using predicted expression have identified
thousands of genes whose locally regulated expression is associated with complex traits …
thousands of genes whose locally regulated expression is associated with complex traits …
Extreme polygenicity of complex traits is explained by negative selection
Complex traits and common diseases are extremely polygenic, their heritability spread
across thousands of loci. One possible explanation is that thousands of genes and loci have …
across thousands of loci. One possible explanation is that thousands of genes and loci have …
Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting
More than 100,000 genetic variants are classified as disease causing in public databases.
However, the true penetrance of many of these rare alleles is uncertain and might be over …
However, the true penetrance of many of these rare alleles is uncertain and might be over …
A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis
Genome-wide association studies (GWAS) have identified loci for kidney disease, but the
causal variants, genes, and pathways remain unknown. Here we identify two kidney disease …
causal variants, genes, and pathways remain unknown. Here we identify two kidney disease …
Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits
There is increasing evidence that many risk loci found using genome-wide association
studies are molecular quantitative trait loci (QTLs). Here we introduce a new set of functional …
studies are molecular quantitative trait loci (QTLs). Here we introduce a new set of functional …