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 …
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
genomic loci across a range of human diseases and traits. However, most biobanks are …
Complementary Alu sequences mediate enhancer–promoter selectivity
L Liang, C Cao, L Ji, Z Cai, D Wang, R Ye, J Chen… - Nature, 2023 - nature.com
Enhancers determine spatiotemporal gene expression programs by engaging with long-
range promoters,,–. However, it remains unknown how enhancers find their cognate …
range promoters,,–. However, it remains unknown how enhancers find their cognate …
Bringing the animal QTLdb and CorrDB into the future: meeting new challenges and providing updated services
Abstract The Animal QTLdb (https://www. animalgenome. org/QTLdb) and CorrDB
(https://www. animalgenome. org/CorrDB) are unique resources for livestock animal …
(https://www. animalgenome. org/CorrDB) are unique resources for livestock animal …
Regulatory genomic circuitry of human disease loci by integrative epigenomics
Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
The COVID-19 host genetics initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic
COVID-19 Host Genetics Initiative aganna … - European Journal of …, 2020 - nature.com
The COVID-19 pandemic is a global crisis creating severe disruptions across the economy
and health system. Insights into how to better understand and treat COVID-19 are …
and health system. Insights into how to better understand and treat COVID-19 are …
PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations
MA Kamat, JA Blackshaw, R Young, P Surendran… - …, 2019 - academic.oup.com
PhenoScanner is a curated database of publicly available results from large-scale genetic
association studies in humans. This online tool facilitates 'phenome scans', where genetic …
association studies in humans. This online tool facilitates 'phenome scans', where genetic …
Genetic analyses of diverse populations improves discovery for complex traits
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …
the biology of complex traits, drug development and clinical guidelines. However, the …