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. 2020 Jul 2;10:10921. doi: 10.1038/s41598-020-67872-z

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© The Author(s) 2020

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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Identified candidate genes with somatic and/or germline single nucleotide variations in iPSCs of TOF patients and healthy relatives. (A) SNVs identified in blood and/or pooled iPSCs (n = 3). (B) Sequencing coverage and base quality for SNVs in blood (light red) or iPSCs only (cyan). (C) Filtering for disease candidate genes with somatic and germline SNVs. (D) Candidate genes with somatic SNVs. Whole genome sequencing was performed for pooled iPSCs and identified somatic SNVs were verified clone-wise (iPSC-specific) by whole transcriptome sequencing (RNA-seq). The individual somatic SNVs are marked in red. SNVs confirmed by Sanger sequencing are marked in bold. SNVs not verified by RNA-seq but confirmed by Sanger are marked by bold brackets. MAF: minor allele frequency; R: Spearman correlation; SNVs: single nucleotide variations; TPM: transcripts per kilobase million; WGS: whole genome sequencing.