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. 2023 Jan 27;15:5. doi: 10.1186/s13073-023-01157-8

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© The Author(s) 2023

Open AccessThis 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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 2 — Diagnostic yield, rare disease frequency, and inheritance patterns. A Distribution of patients and diagnostic yield by age and gender. B Frequencies of rare diseases (N = 221) observed in this cohort. Most diseases (> 180) are seen only once. C Breakdown of inheritance patterns of diagnoses for cases with positive findings by sequencing (six cases had dual diagnoses and were counted twice in this figure)