RAISS: robust and accurate imputation from summary statistics

H Julienne, H Shi, B Pasaniuc, H Aschard - Bioinformatics, 2019 - academic.oup.com
… high accuracy imputation from summary statistics. We demonstrate this accuracy for variants
of all effect sizes on real data … Filtering imputed SNPs by their R 2 improves only slightly the …

[HTML][HTML] Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes

X Zhu, M Stephens - Nature communications, 2018 - nature.com
… based enrichment analysis method for GWAS summary statistics… strong evidence for
enrichment—for example, 20 traits have … However, this extension would increase computation …

[HTML][HTML] Fast and rigorous computation of gene and pathway scores from SNP-based summary statistics

D Lamparter, D Marbach, R Rueedi… - PLoS computational …, 2016 - journals.plos.org
enrichment approach. We demonstrate the marked increase in power by analyzing summary
statistics … (Fig 2A): for the HapMap imputed data, VEGAS took 29 hours to compute 18,132 …

Enhancing discoveries of molecular QTL studies with small sample size using summary statistic imputation

T Wang, Y Liu, Q Yin, J Geng, J Chen… - Briefings in …, 2022 - academic.oup.com
impute summary statistics from a single-cell RNA-sequencing-based eQTL study with six
major cell types. We detect a large amount of novel significant eQTL associations (an increase

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

C Benner, CCA Spencer, AS Havulinna… - …, 2016 - academic.oup.com
… for assessing the evidence that the ℓ th SNP is causal as … K = 5 to demonstrate the increase
in fine-mapping performance … through imputation or indirectly through other SNPs in the data. …

… a summary-statistics-based R package for accurate estimation of linkage disequilibrium for variants, Gaussian imputation, and TWAS analysis of cosmopolitan cohorts

D Lee, SA Bacanu - Bioinformatics, 2024 - academic.oup.com
… This panel enhances the range and accuracy of imputable variants, including the ability
to impute summary statistics of rarer variants. As a result, GAUSS elevates the quality and …

[HTML][HTML] Estimating colocalization probability from limited summary statistics

EA King, F Dunbar, JW Davis, JF Degner - BMC bioinformatics, 2021 - Springer
… is enriched for regions where there is evidence of multiple causal variants in the GWAS trait.
When multiple causal variants are present, imputed summary statistics … these could increase

[HTML][HTML] Fine-mapping from summary data with the “Sum of Single Effects” model

Y Zou, P Carbonetto, G Wang, M Stephens - PLoS Genetics, 2022 - journals.plos.org
improves model fits in some data sets, and hence improvesfunction known as the “evidence
lower bound” (ELBO). … SNPs from the exact same samples, using genotype imputation if …

Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
… associations in imputation using summary statistics can be … functional annotation data to
further increase fine-mapping … enriched functional annotations using summary statistic data

Improved methods for multi-trait fine mapping of pleiotropic risk loci

G Kichaev, M Roytman, R Johnson, E Eskin… - …, 2017 - academic.oup.com
… DHS enrichment to reflect a wide diversity of potential functional genetic architectures. In
general, we see that leveraging functional annotation data improves … using summary data from …