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. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317

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Copyright © 2021 Ascari, Rendtorff, De Bruyne, De Zaeytijd, Van Lint, Bauwens, Van Heetvelde, Arno, Jacob, Creytens, Van Dorpe, Van Laethem, Rosseel, De Pooter, De Rijk, De Coster, Menten, Rey, Strazisar, Bertelsen, Tranebjaerg and De Baere.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Deletion coverage plots and IGV view of the complex SV detected via targeted LRS in F3, II:1. (A) ExomeDepth coverage plots for homozygous deletion (F1, II:1, top) and heterozygous deletion (F3, II:1, middle) compared to control (bottom). Coverage suggested for F3, II:1 the same deletion described for F1, II:1 but in heterozygous state. (B) Delineation of the SV via targeted LRS of the junction product obtained in F3, II:1 identified the same complex deletion–inversion–deletion found previously in F1, II:1.