[HTML][HTML] Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

Y Tanigawa, J Li, JM Justesen, H Horn… - Nature …, 2019 - nature.com
Population-based biobanks with genomic and dense phenotype data provide opportunities
for generating effective therapeutic hypotheses and understanding the genomic role in …

Genetic analyses of diverse populations improves discovery for complex traits

GL Wojcik, M Graff, KK Nishimura, R Tao, J Haessler… - Nature, 2019 - nature.com
Genome-wide association studies (GWAS) have laid the foundation for investigations into
the biology of complex traits, drug development and clinical guidelines. However, the …

Gene regulatory mechanisms underpinning prostate cancer susceptibility

T Whitington, P Gao, W Song, H Ross-Adams… - Nature …, 2016 - nature.com
Molecular characterization of genome-wide association study (GWAS) loci can uncover key
genes and biological mechanisms underpinning complex traits and diseases. Here we …

Genome-wide genetic data on~ 500,000 UK Biobank participants

C Bycroft, C Freeman, D Petkova, G Band, LT Elliott… - BioRxiv, 2017 - biorxiv.org
The UK Biobank project is a large prospective cohort study of~ 500,000 individuals from
across the United Kingdom, aged between 40-69 at recruitment. A rich variety of phenotypic …

[HTML][HTML] A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci

AC Joslin, DR Sobreira, GT Hansen, NJ Sakabe… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have identified many disease-associated
variants, yet mechanisms underlying these associations remain unclear. To understand …

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

JC Denny, L Bastarache, MD Ritchie, RJ Carroll… - Nature …, 2013 - nature.com
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …

Linking disease associations with regulatory information in the human genome

MA Schaub, AP Boyle, A Kundaje, S Batzoglou… - Genome …, 2012 - genome.cshlp.org
Genome-wide association studies have been successful in identifying single nucleotide
polymorphisms (SNPs) associated with a large number of phenotypes. However, an …

Bioinformatics challenges in genome-wide association studies (GWAS)

R De, WS Bush, JH Moore - Clinical Bioinformatics, 2014 - Springer
Genome-wide association studies (GWAS) are a powerful tool for investigators to examine
the human genome to detect genetic risk factors, reveal the genetic architecture of diseases …

[HTML][HTML] GWAS and drug targets

C Cao, J Moult - BMC genomics, 2014 - Springer
Background Genome wide association studies (GWAS) have revealed a large number of
links between genome variation and complex disease. Among other benefits, it is expected …

Mining the unknown: assigning function to noncoding single nucleotide polymorphisms

SS Nishizaki, AP Boyle - Trends in Genetics, 2017 - cell.com
One of the formative goals of genetics research is to understand how genetic variation leads
to phenotypic differences and human disease. Genome-wide association studies (GWASs) …