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. 2020 Apr 8;11:1740. doi: 10.1038/s41467-020-15336-3

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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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Fig. 1 — a Sample quality control. b Search for the putative trios carrying the mixed haplotype pattern. I. Distribution of the informative trios where at least one variant (variant allele fraction (VAF) > 5%) is detected in the father, but not in the mother. II. Distribution of trios where at least one variant was shared in the fathers and their offspring. c Number of homoplasmic variants in 32 fathers. Yellow bars represent fathers’ homoplasmic variants also observed in the mothers and their offspring; pink bars represent the homoplasmic variants also observed in their offspring, but not detected in the mothers. Blue bars represent homoplasmic variants only observed in the fathers which are not detected in either the mothers or their offspring. d Pedigrees of the seven families showing mixed haplotypes. The symbols with lines represent the individuals carrying the mixed haplotypes.