Results 21 to 30 of about 274,572 (340)

MAGMA: Generalized Gene-Set Analysis of GWAS Data

PLoS Comput. Biol., 2015
By aggregating data for complex traits in a biologically meaningful way, gene and gene-set analysis constitute a valuable addition to single-marker analysis. However, although various methods for gene and gene-set analysis currently exist, they generally
C. D. Leeuw, J. Mooij, T. Heskes, D. Posthuma   +3 more
semanticscholar   +1 more source

A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density. [PDF]

, 2016
Primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, has been associated with increased incidence of osteoporosis. Intriguingly, two PBC susceptibility loci identified through genome-wide association studies are also involved in bone ...
Bian, Zhaolian, Chen, Haoyan, Gershwin, M Eric, Jiang, Xiang, Li, Enling, Li, Zhiqiang, Lian, Min, Liao, Wilson, Ma, Xiong, Miao, Qi, Seldin, Michael F, Shi, Yongyong, Tang, Ruqi, Wang, Qixia, Wang, Zhaoyue, Wei, Yiran, Yang, Fan, Yang, Yue, Zhang, Haiyan   +18 more
core   +2 more sources

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

Nucleic Acids Res., 2016
The NHGRI-EBI GWAS Catalog has provided data from published genome-wide association studies since 2008. In 2015, the database was redesigned and relocated to EMBL-EBI.
J. MacArthur, Emily Bowler, M. Cerezo, Laurent Gil, Peggy Hall, Emma Hastings, Heather Junkins, A. McMahon, Annalisa Milano, Joannella Morales, Z. Pendlington, Danielle Welter, Tony Burdett, L. Hindorff, P. Flicek, Fiona Cunningham, H. Parkinson   +16 more
semanticscholar   +1 more source

Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery

bioRxiv, 2022
Most signals in genome-wide association studies (GWAS) of complex traits point to noncoding genetic variants with putative gene regulatory effects. However, currently identified expression quantitative trait loci (eQTLs) explain only a small fraction of ...
H. Mostafavi, J. Spence, S. Naqvi, J. Pritchard   +3 more
semanticscholar   +1 more source

Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

Genome Biology, 2021
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulation and a ...
A. Barbeira, Rodrigo Bonazzola, E. Gamazon, Yanyu Liang, YoSon Park, Sarah Kim-Hellmuth, Gao Wang, Zhuoxun Jiang, Dan Zhou, F. Hormozdiari, Boxiang Liu, Abhiram S. Rao, Andrew R. Hamel, M. Pividori, F. Aguet, L. Bastarache, D. Jordan, M. Verbanck, R. Do, M. Stephens, K. Ardlie, Mark I. McCarthy, S. Montgomery, A. Segrè, Christopher D. Brown, T. Lappalainen, Xiaoquan Wen, H. Im   +27 more
semanticscholar   +1 more source

Orienting the causal relationship between imprecisely measured traits using GWAS summary data

PLoS Genetics, 2017
Inference about the causal structure that induces correlations between two traits can be achieved by combining genetic associations with a mediation-based approach, as is done in the causal inference test (CIT). However, we show that measurement error in
G. Hemani, K. Tilling, G. Davey Smith
semanticscholar   +1 more source

From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases

Frontiers in Genetics, 2020
Genome-wide association studies (GWAS) have successfully mapped thousands of loci associated with complex traits. These associations could reveal the molecular mechanisms altered in common complex diseases and result in the identification of novel drug ...
E. Cano-Gamez, G. Trynka
semanticscholar   +1 more source

Revisiting the genome-wide significance threshold for common variant GWAS

G3, 2021
Over the last decade, GWAS meta-analyses have used a strict P-value threshold of 5 × 10−8 to classify associations as significant. Here, we use our current understanding of frequently studied traits including lipid levels, height, and BMI to revisit this
Zhongsheng Chen, M. Boehnke, Xiaoquan Wen, B. Mukherjee   +3 more
semanticscholar   +1 more source

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis [PDF]

, 2020
Background A non-invasive method to grade the severity of steatohepatitis and liver fibrosis is magnetic resonance imaging (MRI) based corrected T1 (cT1).
Banerjee, R, Banerjee, R, Bell, J.D., Bell, J.D., Hemingway, H., Hemingway, H., Hingorani, A.D., Hingorani, A.D., Kelly, M., Kelly, M., McGonigle, J., McGonigle, J., Neubauer, S., Neubauer, S., Nicholls, R.C., Nicholls, R.C., Parisinos, C.A., Parisinos, C.A., Patel, R.S., Patel, R.S., Thomas, E.L., Thomas, E.L., Wilman, H., Wilman, H., Yaghootkar, H., Yaghootkar, H.   +25 more
core   +3 more sources

MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics

bioRxiv, 2021
Summary Genome-wide association studies (GWAS) summary statistics have popularised and accelerated genetic research. However, a lack of standardisation of the file formats used has proven problematic when running secondary analysis tools or performing ...
Alan E. Murphy, Nathan G. Skene
semanticscholar   +1 more source