MetaXcan: summary statistics based gene-level association method infers accurate PrediXcan results

A Barbeira, KP Shah, JM Torres, HE Wheeler… - BioRxiv, 2016 - biorxiv.org
To gain biological insight into the discoveries made by GWAS and meta-analysis studies,
effective integration of functional data generated by large-scale efforts such as the GTEx …

Evaluation and application of summary statistic imputation to discover new height-associated loci

S Rüeger, A McDaid, Z Kutalik - PLoS genetics, 2018 - journals.plos.org
As most of the heritability of complex traits is attributed to common and low frequency
genetic variants, imputing them by combining genotyping chips and large sequenced …

Multiple testing correction in linear mixed models

JWJ Joo, F Hormozdiari, B Han, E Eskin - Genome biology, 2016 - Springer
Background Multiple hypothesis testing is a major issue in genome-wide association studies
(GWAS), which often analyze millions of markers. The permutation test is considered to be …

C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis

K Lepik, T Annilo, V Kukuškina… - PLoS computational …, 2017 - journals.plos.org
Elevated C-reactive protein (CRP) concentrations in the blood are associated with acute and
chronic infections and inflammation. Nevertheless, the functional role of increased CRP in …

Prediction of Alzheimer's disease-associated genes by integration of GWAS summary data and expression data

S Hao, R Wang, Y Zhang, H Zhan - Frontiers in genetics, 2019 - frontiersin.org
Alzheimer's disease (AD) is the most common cause of dementia. It is the fifth leading cause
of death among elderly people. With high genetic heritability (79%), finding the disease's …

A powerful fine-mapping method for transcriptome-wide association studies

C Wu, W Pan - Human genetics, 2020 - Springer
Transcriptome-wide association studies (TWAS) have been recently applied to successfully
identify many novel genes associated with complex traits. While appealing, TWAS tend to …

Trans‐Ethnic Fine‐Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease

T Naito, W Satake, K Ogawa, K Suzuki… - Movement …, 2021 - Wiley Online Library
Background Despite evidence for the role of human leukocyte antigen (HLA) in the genetic
predisposition to Parkinson's disease (PD), the complex haplotype structure and highly …

Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries

Z Zheng, S Liu, J Sidorenko, L Yengo, P Turley, A Ani… - bioRxiv, 2022 - biorxiv.org
We develop a new method, SBayesRC, that integrates GWAS summary statistics with
functional genomic annotations to improve polygenic prediction of complex traits. Our …

Immunochip meta-analysis of inflammatory bowel disease identifies three novel loci and four novel associations in previously reported loci

M Hong, BD Ye, SK Yang, S Jung… - Journal of Crohn's …, 2018 - academic.oup.com
Abstract Background and Aims Recent meta-analysis of genome-wide association studies
have identified over 241 inflammatory bowel disease susceptibility loci. However, the known …

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 …