[HTML][HTML] Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression

M Cavalli, G Pan, H Nord, O Wallerman, E Wallén Arzt… - Human genetics, 2016 - Springer
Genome-wide association studies (GWAS) have identified a large number of disease-
associated SNPs, but in few cases the functional variant and the gene it controls have been …

Laying a solid foundation for Manhattan–'setting the functional basis for the post-GWAS era'

X Zhang, SD Bailey, M Lupien - Trends in Genetics, 2014 - cell.com
Genome-wide association studies (GWAS) have identified more than 8900 genetic variants,
mainly single-nucleotide polymorphisms (SNPs), associated with hundreds of human traits …

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 …

[HTML][HTML] Phenome-wide association studies (PheWASs) for functional variants

Z Ye, J Mayer, L Ivacic, Z Zhou, M He… - European Journal of …, 2015 - nature.com
The genome-wide association study (GWAS) is a powerful approach for studying the genetic
complexities of human disease. Unfortunately, GWASs often fail to identify clinically …

[HTML][HTML] An open access database of genome-wide association results

AD Johnson, CJ O'Donnell - BMC medical genetics, 2009 - Springer
Background The number of genome-wide association studies (GWAS) is growing rapidly
leading to the discovery and replication of many new disease loci. Combining results from …

Challenges and progress in interpretation of non-coding genetic variants associated with human disease

Y Zhu, C Tazearslan, Y Suh - Experimental Biology and …, 2017 - journals.sagepub.com
Genome-wide association studies have shown that the far majority of disease-associated
variants reside in the non-coding regions of the genome, suggesting that gene regulatory …

Genome-wide association studies: potential next steps on a genetic journey

MI McCarthy, JN Hirschhorn - Human molecular genetics, 2008 - academic.oup.com
Genome-wide association studies have successfully identified numerous loci at which
common variants influence disease risk or quantitative traits. Despite these successes, the …

[HTML][HTML] Large-scale identification of common trait and disease variants affecting gene expression

ME Hauberg, W Zhang, C Giambartolomei… - The American Journal of …, 2017 - cell.com
Genome-wide association studies (GWASs) have identified a multitude of genetic loci
involved with traits and diseases. However, it is often unclear which genes are affected in …

FORGE: A tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions

I Dunham, E Kulesha, V Iotchkova, S Morganella… - BioRxiv, 2014 - biorxiv.org
Genome wide association studies provide an unbiased discovery mechanism for numerous
human diseases. However, a frustration in the analysis of GWAS is that the majority of …

[HTML][HTML] On the identification of potential regulatory variants within genome wide association candidate SNP sets

C Chen, IS Chang, CA Hsiung, WW Wasserman - BMC medical genomics, 2014 - Springer
Background Genome wide association studies (GWAS) are a population-scale approach to
the identification of segments of the genome in which genetic variations may contribute to …