Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2022 Sep 13;30(12):1413–1422. doi: 10.1038/s41431-022-01177-9

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 4 — A Violin and scatter plots of 10.000 simulations randomly drawing 271 individuals from the 3315 individuals reported by Groopman et al. and subset whether the reported variants would be detectable by exome (green) or our targeted panel (red). Estimated p value for the yield in our cohort (green dot) <0.0001. To exclude differences in variant classification between the two studies, we classified both our and all variants from the Groopman study using two automated ACMG classifiers which excluded all variants not classified as (likely) pathogenic from both cohorts. This gave similar results to the first simulation and thus excluded systematic differences in manual variant classification causing our higher yield (compare Figure S1). B To exclude unexpected enrichment for COL4A3, COL4A4, and COL4A5 genes, we further compared the fraction of variants in these genes in these simulations which showed no significant difference (p-simulated ~0.43) to the fraction (26/30 ~ 86.7%) observed in our cohort. Therefore, one could consider the COL4A3/4/5 variants as background, which would leave five small variants in ADTKD genes in our cohort, representing an enrichment of ~5.1 fold when compared to the Groopman cohort (calculation: (5/271)/(12/3315)). Compare Figure S1 for automated classification results. Compare File S4 [21] for full simulation results.