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....
Autores principales: | , , , |
---|---|
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 |