Table 1 Description of functional weighting methods.

From: Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and high positive predictive value

Method name

Classification

Level

Citation

Significance threshold

Suggestive

NA

Variant

NA

p < 1e−5

GenoCanyon10K

Annotation

Variant

Lu et al. Sci. Rep. 2015

Prediction Score >0.5

GenoSkyline

Annotation

Variant

Lu et al. PLoS Genet. 2017

Prediction Score >0.5

Sveinbjornsson

Annotation

Variant

Sveinbjornsson et al. Nat. Genet. 2016

Annotation-based threshold

LSMM

Annotation

Variant

Ming et al. Bioinformatics 2018

FDR < 0.05

GPA

Pleiotropy

Variant

Chung et al. PLoS Genet. 2014

FDR < 0.05

MTAG

Pleiotropy

Variant

Turley et al. Nat. Genet. 2018

p < 5e−8

fGWAS

eQTL

Variant

Pickrell. AJHG 2014

PPA > 0.9

Weighted eQTL

eQTL

Variant

Li et al. Front. Genet. 2013

p < 5e−8

COLOC

eQTL

eQTL

Giambartolomei et al. PLoS Genet. 2014

Approximate Bayes Factor >0.75

MOLOC

eQTL

eQTL

Giambartolomei et al. Bioinformatics 2018

Posterior Probability >0.80

Jepeg

eQTL

eQTL

Lee et al. Bioinformatics 2014

Bonferroni-adjusted Jepeg p-value

Sherlock

eQTL

eQTL

He et al. AJHG 2013

Log Bayes Factor >= 4.0

SMR

eQTL

eQTL

Zhu et al. Nat. Genet. 2016

FDR q-value < 0.05; Heidi p-value < 0.05

TWAS/FUSION

eQTL

eQTL

Gusev et al. Nat. Gen. 2016

Bonferroni-adjusted TWAS p-value

fastENLOC

eQTL

eQTL

Wen et al. PLoS Genet. 2017

RCP > = 0.50

EUGENE

eQTL

eQTL

Ferreira et al. JACI 2017

p-value corresponding to largest FDR < 0.05

UTMOST

eQTL

eQTL

Hu et al. Nat. Genet. 2019

Bonferroni-adjusted UTMOST p-value

  1. FDR false discovery rate.