[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 …
Advancing the use of genome-wide association studies for drug repurposing
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …
complex diseases, which are broadly expected to lead to the identification of new drug …
Genome-wide enhancer maps link risk variants to disease genes
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …
are associated with human diseases and complex traits, each of which could reveal insights …
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …
researchers to better identify and interpret causal genes in many diseases. However, there …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
[HTML][HTML] Aberrant splicing prediction across human tissues
Aberrant splicing is a major cause of genetic disorders but its direct detection in
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …
Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer's disease pathogenesis
AP Wingo, Y Liu, ES Gerasimov, J Gockley… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have identified many risk loci for Alzheimer's
disease (AD),, but how these loci confer AD risk is unclear. Here, we aimed to identify loci …
disease (AD),, but how these loci confer AD risk is unclear. Here, we aimed to identify loci …
Genetics meets proteomics: perspectives for large population-based studies
Proteomic analysis of cells, tissues and body fluids has generated valuable insights into the
complex processes influencing human biology. Proteins represent intermediate phenotypes …
complex processes influencing human biology. Proteins represent intermediate phenotypes …
[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 …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …