[HTML][HTML] Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

M Kanai, M Akiyama, A Takahashi, N Matoba… - Nature …, 2018 - nature.com
Clinical measurements can be viewed as useful intermediate phenotypes to promote
understanding of complex human diseases. To acquire comprehensive insights into the …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

K Ishigaki, M Akiyama, M Kanai, A Takahashi… - Nature …, 2020 - nature.com
The overwhelming majority of participants in current genetic studies are of European
ancestry. To elucidate disease biology in the East Asian population, we conducted a …

Interpreting non-coding disease-associated human variants using single-cell epigenomics

KJ Gaulton, S Preissl, B Ren - Nature Reviews Genetics, 2023 - nature.com
Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …

[HTML][HTML] Genetic effects on gene expression across human tissues

GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

[HTML][HTML] The genotype-tissue expression (GTEx) project

J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo… - Nature …, 2013 - nature.com
Genome-wide association studies have identified thousands of loci for common diseases,
but, for the majority of these, the mechanisms underlying disease susceptibility remain …

Multi-omics study for interpretation of genome-wide association study

M Akiyama - Journal of Human Genetics, 2021 - nature.com
Genome-wide association studies (GWASs) have identified thousands of genetic loci
associated with complex traits, including a wide variety of diseases. Despite the successful …

Progress and promise of genome-wide association studies for human complex trait genetics

BE Stranger, EA Stahl, T Raj - Genetics, 2011 - academic.oup.com
Enormous progress in mapping complex traits in humans has been made in the last 5 yr.
There has been early success for prevalent diseases with complex phenotypes. These …

[PDF][PDF] Assessing digital phenotyping to enhance genetic studies of human diseases

C DeBoever, Y Tanigawa, M Aguirre, G McInnes… - The American Journal of …, 2020 - cell.com
Population-scale biobanks that combine genetic data and high-dimensional phenotyping for
a large number of participants provide an exciting opportunity to perform genome-wide …

Using gene expression to investigate the genetic basis of complex disorders

AC Nica, ET Dermitzakis - Human molecular genetics, 2008 - academic.oup.com
The identification of complex disease susceptibility loci through genome-wide association
studies (GWAS) has recently become possible and is now a method of choice for …