Fine mapping versus replication in whole-genome association studies

GM Clarke, KW Carter, LJ Palmer, AP Morris… - The American Journal of …, 2007 - cell.com
Association replication studies have a poor track record and, even when successful, often
claim association with different markers, alleles, and phenotypes than those reported in the …

Guidelines for large-scale sequence-based complex trait association studies: lessons learned from the NHLBI exome sequencing project

PL Auer, AP Reiner, G Wang, HM Kang… - The American Journal of …, 2016 - cell.com
Massively parallel whole-genome sequencing (WGS) data have ushered in a new era in
human genetics. These data are now being used to understand the role of rare variants in …

Discovery properties of genome-wide association signals from cumulatively combined data sets

TV Pereira, NA Patsopoulos, G Salanti… - American journal of …, 2009 - academic.oup.com
Genetic effects for common variants affecting complex disease risk are subtle. Single
genome-wide association (GWA) studies are typically underpowered to detect these effects …

Non-replication and inconsistency in the genome-wide association setting

JPA Ioannidis - Human heredity, 2007 - karger.com
Non-replication and inconsistency had been common features in the search for common
variants of candidate genes affecting the risk of complex diseases. They may continue to …

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 …

[HTML][HTML] Pathway analysis of seven common diseases assessed by genome-wide association

A Torkamani, EJ Topol, NJ Schork - Genomics, 2008 - Elsevier
Recent genome-wide association studies (GWAS) have identified DNA sequence variations
that exhibit unequivocal statistical associations with many common chronic diseases …

GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies

T Beck, T Shorter, AJ Brookes - Nucleic acids research, 2020 - academic.oup.com
The GWAS Central resource provides a toolkit for integrative access and visualization of a
uniquely extensive collection of genome-wide association study data, while ensuring safe …

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 …

Genomewide transmission/disequilibrium testing—consideration of the genotypic relative risks at disease loci

NJ Camp - The American Journal of Human Genetics, 1997 - cell.com
Genomewide association studies are set to become the tool of the future for detection of
small-effect genes in complex diseases. It will therefore be necessary to calculate sufficient …

Genome-wide strategies for detecting multiple loci that influence complex diseases

J Marchini, P Donnelly, LR Cardon - Nature genetics, 2005 - nature.com
After nearly 10 years of intense academic and commercial research effort, large genome-
wide association studies for common complex diseases are now imminent. Although these …