Colocalization of GWAS and eQTL signals detects target genes

F Hormozdiari, M Van De Bunt, AV Segre, X Li… - The American Journal of …, 2016 - cell.com
The vast majority of genome-wide association study (GWAS) risk loci fall in non-coding
regions of the genome. One possible hypothesis is that these GWAS risk loci alter the …

FINEMAP: efficient variable selection using summary data from genome-wide association studies

C Benner, CCA Spencer, AS Havulinna… - …, 2016 - academic.oup.com
Motivation: The goal of fine-mapping in genomic regions associated with complex diseases
and traits is to identify causal variants that point to molecular mechanisms behind the …

JAM: a scalable Bayesian framework for joint analysis of marginal SNP effects

PJ Newcombe, DV Conti… - Genetic epidemiology, 2016 - Wiley Online Library
Recently, large scale genome‐wide association study (GWAS) meta‐analyses have boosted
the number of known signals for some traits into the tens and hundreds. Typically, however …

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

V Iotchkova, J Huang, JA Morris, D Jain, C Barbieri… - Nature …, 2016 - nature.com
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic
variation underlying human traits. Here we apply genotype imputation based on whole …

Joint Bayesian inference of risk variants and tissue-specific epigenomic enrichments across multiple complex human diseases

Y Li, M Kellis - Nucleic acids research, 2016 - academic.oup.com
Genome wide association studies (GWAS) provide a powerful approach for uncovering
disease-associated variants in human, but fine-mapping the causal variants remains a …

Incorporating functional annotations for fine-mapping causal variants in a Bayesian framework using summary statistics

W Chen, SK McDonnell, SN Thibodeau, LS Tillmans… - Genetics, 2016 - academic.oup.com
Functional annotations have been shown to improve both the discovery power and fine-
mapping accuracy in genome-wide association studies. However, the optimal strategy to …

Reducing GWAS complexity

DJ Hazelett, DV Conti, Y Han, AA Al Olama, D Easton… - Cell Cycle, 2016 - Taylor & Francis
Genome-wide association studies (GWAS) have revealed numerous genomic'hits'
associated with complex phenotypes. In most cases these hits, along with surrogate genetic …

RiVIERA-MT: A Bayesian model to infer risk variants in related traits using summary statistics and functional genomic annotations

Y Li, M Kellis - bioRxiv, 2016 - biorxiv.org
Fine-mapping causal variants is challenging due to linkage disequilibrium and the lack of
interpretation of noncoding mutations. Existing fine-mapping methods do not scale well on …

Multivariate linear mixed models for statistical genetics

FP Casale - 2016 - repository.cam.ac.uk
In the last decade, genome-wide association studies have helped to advance our
understanding of the genetic architecture of many important traits, including diseases …

The decay of disease association with declining linkage disequilibrium: a fine mapping theorem

M Maadooliat, NK Bansal, J Upadhya, MR Farazi… - Frontiers in …, 2016 - frontiersin.org
Several important and fundamental aspects of disease genetics models have yet to be
described. One such property is the relationship of disease association statistics at a marker …