Optical Genome Mapping for Cytogenetic Diagnostics in AML
The classification and risk stratification of acute myeloid leukemia (AML) is based on reliable genetic diagnostics. A broad and expanding variety of relevant aberrations are structural variants beyond single-nucleotide variants. Optical Genome Mapping is an unbiased, genome-wide, amplification-free...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-03-01
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| Series: | Cancers |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2072-6694/15/6/1684 |
| _version_ | 1797612995182854144 |
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| author | Verena Nilius-Eliliwi Wanda M. Gerding Roland Schroers Huu Phuc Nguyen Deepak B. Vangala |
| author_facet | Verena Nilius-Eliliwi Wanda M. Gerding Roland Schroers Huu Phuc Nguyen Deepak B. Vangala |
| author_sort | Verena Nilius-Eliliwi |
| collection | DOAJ |
| description | The classification and risk stratification of acute myeloid leukemia (AML) is based on reliable genetic diagnostics. A broad and expanding variety of relevant aberrations are structural variants beyond single-nucleotide variants. Optical Genome Mapping is an unbiased, genome-wide, amplification-free method for the detection of structural variants. In this review, the current knowledge of Optical Genome Mapping (OGM) with regard to diagnostics in hematological malignancies in general, and AML in specific, is summarized. Furthermore, this review focuses on the ability of OGM to expand the use of cytogenetic diagnostics in AML and perhaps even replace older techniques such as chromosomal-banding analysis, fluorescence in situ hybridization, or copy number variation microarrays. Finally, OGM is compared to amplification-based techniques and a brief outlook for future directions is given. |
| first_indexed | 2024-03-11T06:49:43Z |
| format | Article |
| id | doaj.art-8044125cd05145fa8bb2bea74e9670dd |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-11T06:49:43Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-8044125cd05145fa8bb2bea74e9670dd2023-11-17T10:05:44ZengMDPI AGCancers2072-66942023-03-01156168410.3390/cancers15061684Optical Genome Mapping for Cytogenetic Diagnostics in AMLVerena Nilius-Eliliwi0Wanda M. Gerding1Roland Schroers2Huu Phuc Nguyen3Deepak B. Vangala4Center for Hemato-Oncological Diseases, Department of Medicine, University Hospital Knappschaftskrankenhaus Bochum, Ruhr-University Bochum, 44892 Bochum, GermanyHuman Genetics, Ruhr-University Bochum, 44801 Bochum, GermanyCenter for Hemato-Oncological Diseases, Department of Medicine, University Hospital Knappschaftskrankenhaus Bochum, Ruhr-University Bochum, 44892 Bochum, GermanyHuman Genetics, Ruhr-University Bochum, 44801 Bochum, GermanyCenter for Hemato-Oncological Diseases, Department of Medicine, University Hospital Knappschaftskrankenhaus Bochum, Ruhr-University Bochum, 44892 Bochum, GermanyThe classification and risk stratification of acute myeloid leukemia (AML) is based on reliable genetic diagnostics. A broad and expanding variety of relevant aberrations are structural variants beyond single-nucleotide variants. Optical Genome Mapping is an unbiased, genome-wide, amplification-free method for the detection of structural variants. In this review, the current knowledge of Optical Genome Mapping (OGM) with regard to diagnostics in hematological malignancies in general, and AML in specific, is summarized. Furthermore, this review focuses on the ability of OGM to expand the use of cytogenetic diagnostics in AML and perhaps even replace older techniques such as chromosomal-banding analysis, fluorescence in situ hybridization, or copy number variation microarrays. Finally, OGM is compared to amplification-based techniques and a brief outlook for future directions is given.https://www.mdpi.com/2072-6694/15/6/1684AMLOptical Genome Mappingcytogeneticswhole-genome sequencingWGS |
| spellingShingle | Verena Nilius-Eliliwi Wanda M. Gerding Roland Schroers Huu Phuc Nguyen Deepak B. Vangala Optical Genome Mapping for Cytogenetic Diagnostics in AML Cancers AML Optical Genome Mapping cytogenetics whole-genome sequencing WGS |
| title | Optical Genome Mapping for Cytogenetic Diagnostics in AML |
| title_full | Optical Genome Mapping for Cytogenetic Diagnostics in AML |
| title_fullStr | Optical Genome Mapping for Cytogenetic Diagnostics in AML |
| title_full_unstemmed | Optical Genome Mapping for Cytogenetic Diagnostics in AML |
| title_short | Optical Genome Mapping for Cytogenetic Diagnostics in AML |
| title_sort | optical genome mapping for cytogenetic diagnostics in aml |
| topic | AML Optical Genome Mapping cytogenetics whole-genome sequencing WGS |
| url | https://www.mdpi.com/2072-6694/15/6/1684 |
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