[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

M Kanai, R Elzur, W Zhou, KHH Wu, H Rasheed… - Cell Genomics, 2022 - cell.com
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …

CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses

Z Yang, C Wang, L Liu, A Khan, A Lee, B Vardarajan… - Nature Genetics, 2023 - nature.com
Fine-mapping is commonly used to identify putative causal variants at genome-wide
significant loci. Here we propose a Bayesian model for fine-mapping that has several …

echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline

BM Schilder, J Humphrey, T Raj - Bioinformatics, 2022 - academic.oup.com
Abstract Summary echolocatoR integrates a diverse suite of statistical and functional fine-
mapping tools to identify, test enrichment in, and visualize high-confidence causal …

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 …

From genome-wide associations to candidate causal variants by statistical fine-mapping

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …

Insights from complex trait fine-mapping across diverse populations

M Kanai, JC Ulirsch, J Karjalainen, M Kurki… - MedRxiv, 2021 - medrxiv.org
Despite the great success of genome-wide association studies (GWAS) in identifying genetic
loci significantly associated with diseases, the vast majority of causal variants underlying …

EasyStrata: evaluation and visualization of stratified genome-wide association meta-analysis data

TW Winkler, Z Kutalik, M Gorski, C Lottaz… - …, 2015 - academic.oup.com
The R package EasyStrata facilitates the evaluation and visualization of stratified genome-
wide association meta-analyses (GWAMAs) results. It provides (i) statistical methods to test …

Quality control and conduct of genome-wide association meta-analyses

TW Winkler, FR Day, DC Croteau-Chonka, AR Wood… - Nature protocols, 2014 - nature.com
Rigorous organization and quality control (QC) are necessary to facilitate successful
genome-wide association meta-analyses (GWAMAs) of statistics aggregated across multiple …

[HTML][HTML] GWAMA: software for genome-wide association meta-analysis

R Mägi, AP Morris - BMC bioinformatics, 2010 - Springer
Background Despite the recent success of genome-wide association studies in identifying
novel loci contributing effects to complex human traits, such as type 2 diabetes and obesity …

[HTML][HTML] Integrating functional data to prioritize causal variants in statistical fine-mapping studies

G Kichaev, WY Yang, S Lindstrom, F Hormozdiari… - PLoS …, 2014 - journals.plos.org
Standard statistical approaches for prioritization of variants for functional testing in fine-
mapping studies either use marginal association statistics or estimate posterior probabilities …