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. 2019 Oct 29;10:4920. doi: 10.1038/s41467-019-12671-y

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© The Author(s) 2019

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. 2 — Long-read sequencing identifies the structure of the AAATG/AAAAT repeat expansion in intron one of STARD7. a Upper panel shows CCS reads from one member of Family 1 (IV-98) mapped to GRCh38. A read with a 3261 bp insert (blue arrow) which contains both AAATG and AAAAT sequences and flanking sequences that map to either side of the endogenous AAAAT repeat is present. Lower panel shows the component subreads mapped to the same region. b Top panel shows combined PacBio and nanopore reads mapped to hg38, following correction with Canu v1.7, with base pair mismatches in the reads masked for clarity. For Family 1 IV-98 (upper panel), a 2154 bp insert is shown (black arrow) on IGV; however, the read sequence contains a 3672 bp combined AAATG/AAAAT repeat insertion. Lower panel shows a nanopore read in one individual from Family 5 (II-37) with a 1705 bp insert on IGV (blue arrow), however the read contains a 4645 bp combined AAATG/AAAAT repeat insertion. Complete sequences for all reads that span the repeat expansion are included in Supplementary Data