Cargando…

Identification of complex and cryptic chromosomal rearrangements by optical genome mapping

BACKGROUND: Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered difficult to detect by routine cytogenetic methods....

Descripción completa

Detalles Bibliográficos
Autores principales: Shi, Shanshan, Huang, Peizhi, Yan, Ruiling, Li, Ruiman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10134526/
https://www.ncbi.nlm.nih.gov/pubmed/37101225
http://dx.doi.org/10.1186/s13039-023-00636-2
_version_ 1785031782139166720
author Shi, Shanshan
Huang, Peizhi
Yan, Ruiling
Li, Ruiman
author_facet Shi, Shanshan
Huang, Peizhi
Yan, Ruiling
Li, Ruiman
author_sort Shi, Shanshan
collection PubMed
description BACKGROUND: Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered difficult to detect by routine cytogenetic methods. In this study, OGM was applied to delineate the precise chromosomal rearrangements in three cases with uncertain or unconfirmed CCRs detected by conventional karyotyping and one case with a cryptic translocation suggested by fetal chromosomal microarray analysis (CMA). RESULTS: In the three cases with CCRs, OGM not only confirmed or revised the original karyotyping results but also refined the precise chromosomal structures. In the case with a suspected translocation not detected by karyotyping, OGM efficiently identified the cryptic translocation and defined the genomic breakpoints with relatively high accuracy. CONCLUSIONS: Our study confirmed OGM as a robust alternative approach to karyotyping for the detection of chromosomal structural rearrangements, including CCRs and cryptic translocations.
format Online
Article
Text
id pubmed-10134526
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-101345262023-04-28 Identification of complex and cryptic chromosomal rearrangements by optical genome mapping Shi, Shanshan Huang, Peizhi Yan, Ruiling Li, Ruiman Mol Cytogenet Research BACKGROUND: Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered difficult to detect by routine cytogenetic methods. In this study, OGM was applied to delineate the precise chromosomal rearrangements in three cases with uncertain or unconfirmed CCRs detected by conventional karyotyping and one case with a cryptic translocation suggested by fetal chromosomal microarray analysis (CMA). RESULTS: In the three cases with CCRs, OGM not only confirmed or revised the original karyotyping results but also refined the precise chromosomal structures. In the case with a suspected translocation not detected by karyotyping, OGM efficiently identified the cryptic translocation and defined the genomic breakpoints with relatively high accuracy. CONCLUSIONS: Our study confirmed OGM as a robust alternative approach to karyotyping for the detection of chromosomal structural rearrangements, including CCRs and cryptic translocations. BioMed Central 2023-04-26 /pmc/articles/PMC10134526/ /pubmed/37101225 http://dx.doi.org/10.1186/s13039-023-00636-2 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis 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/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Shi, Shanshan
Huang, Peizhi
Yan, Ruiling
Li, Ruiman
Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
title Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
title_full Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
title_fullStr Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
title_full_unstemmed Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
title_short Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
title_sort identification of complex and cryptic chromosomal rearrangements by optical genome mapping
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10134526/
https://www.ncbi.nlm.nih.gov/pubmed/37101225
http://dx.doi.org/10.1186/s13039-023-00636-2
work_keys_str_mv AT shishanshan identificationofcomplexandcrypticchromosomalrearrangementsbyopticalgenomemapping
AT huangpeizhi identificationofcomplexandcrypticchromosomalrearrangementsbyopticalgenomemapping
AT yanruiling identificationofcomplexandcrypticchromosomalrearrangementsbyopticalgenomemapping
AT liruiman identificationofcomplexandcrypticchromosomalrearrangementsbyopticalgenomemapping