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. 2022 Feb 23;603(7899):131–137. doi: 10.1038/s41586-022-04436-3

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© The Author(s) 2022, corrected publication 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Extended Data Fig. 4 — (a) UNC13A expression across tissues and disease subtypes in the NYGC ALS Consortium RNA-seq dataset. Expression normalised as transcripts per million (TPM). Cortical regions have noticeably higher UNC13A expression than the spinal cord. (b) total RNA-seq library size (log10 scaled) (c) RNA integrity score (RIN) (d) Cell type decomposition across NYGC ALS Consortium RNA-seq dataset. While there are differences between tissues and disease-subtypes on these technical factors, specificity of UNC13A CE detection to tissues presumed to contain TDP-43 proteinopathy cannot be explained by these technical factors. Box plots (a–d): boundaries 25–75th percentiles; midline, median; whiskers, Tukey style. Wilcoxon test, significance levels reported as * (p < 0.05) ** (p < 0.01) *** (p < 0.001) **** (p < 0.0001).