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. 2022 Apr 20;12:6512. doi: 10.1038/s41598-022-10483-7

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© The Author(s) 2022

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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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A heterozygous deletion detected with optical mapping resolved with our cas9-assisted targeted nanopore sequencing approach. (A,D) Show the two haplotype contigs of chromosome 12 between 45.45 and 45.55 Mbp. (A) Has no deletion while (D) shows a deletion detected by optical mapping, represented as black bar. (B) Shows the zoomed in view of the non-deletion haplotype contig around 45.51 Mbp. The blue and yellow arrows here represent the gRNAs designed to target this region on this haplotype. The brown bar represents the fragment generated by the gRNA pair. (C) Shows the sequenced reads of expected length aligning between the gRNA cut sites as predicted. Coverage was 171×. (E) Shows the zoomed in view of the deletion haplotype contig around 45.51 Mbp. The blue and red arrows here represent the gRNAs designed to target the deletion containing region. The three colored bars brown, pink and blue together represent the fragment generated by the gRNA pair. (F) Shows the sequenced reads aligning between the gRNA cut sites with a gap in between as expected. Coverage was 5×. The brown bar represents the part of fragments aligning on the 5′ end and the blue bar represents the part of fragments aligning on the 3′ end. The pink bar represents the part of fragments that do not align to hg38.