Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

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

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

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.

PMC Copyright notice

sWGS output and integrative genomics viewer (IGV) view of the structural variants (SVs) detected via long-read sequencing (LRS) in F1 and F2. (A) sWGS in F1, II:1 revealed a homozygous deletion of the region spanning exons 1–5 of CEP78 (top). Subsequent delineation of the SV via targeted LRS of the junction product identified a complex deletion–inversion–deletion (bottom). The left breakpoint is located at (hg38) chr9:78228782, whereas the right breakpoint is located at chr9:78244762. The inverted segment spans chr9:78234546–78234844 [nearby an L1ME3Cz repetitive element (chr9:78234521–78234902)]. The SV overlaps with a previously described SV affecting CEP78 (Sanchis-Juan et al., 2018). (B) sWGS in F2, II:1 identified a heterozygous deletion spanning the entire CEP78 and PSAT1 genes (top). Final delineation was obtained via whole-genome LRS, coordinates are crossing chr9: 78096930–78331887 and cover 235 kb (bottom).