Fig. 2: Gene-level collapsing analysis.
From: Rare variant associations with plasma protein levels in the UK Biobank
a, Miami plot of 1,962 unique gene–protein abundance associations across nine collapsing models. We excluded the empirical null synonymous model. The y axis is capped at 60. If the same gene–protein association was detected in multiple QV models, we retained the association with the smallest P value. The four labelled loci indicate trans-CDS pQTL hotspots. P values were generated via linear regression and were not corrected for multiple testing; the study-wide significance threshold is P ≤ 1 × 10−8. b, The number of unique significant (P ≤ 1 × 10−8) protein abundance associations per gene across the collapsing models. c, The effect sizes of significant gene–protein associations in each collapsing model are stratified by cis versus trans effects.
