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

. 2024 Sep 23;56(10):2046–2053. doi: 10.1038/s41588-024-01910-8

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

© The Author(s) 2024

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

Extended Data Fig. 4 — Fraction of patients in different groups attributable to de novo versus autosomal recessive coding variants [(observed-expected)/N]. The patients are split by (a) level of consanguinity (N = 1,087 and 24,436 for low and high consanguinity respectively), (b) cohort (N = 7,919 and 17,604 for DDD and GeneDx respectively), (c) diagnostic status (N = 8,494 and 17,029 for diagnosed and undiagnosed respectively) or (d) sex (N = 11,316 and 14,207 for female and male respectively). The bars show the attributable fraction estimates within the groups, and error bars show 95% confidence intervals.