O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423004600 |
| _version_ | 1797341965917880320 |
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| author | Fabiola Quintero-Rivera Yulia Mostovoy Philip Boone Steve Huang Kiran Garimella Julian Martinez-Agosto Bianca Russell Tera Bowers Tim De Smet Stacey Gabriel James Gusella Harrison Brand Michael Talkowski |
| author_facet | Fabiola Quintero-Rivera Yulia Mostovoy Philip Boone Steve Huang Kiran Garimella Julian Martinez-Agosto Bianca Russell Tera Bowers Tim De Smet Stacey Gabriel James Gusella Harrison Brand Michael Talkowski |
| author_sort | Fabiola Quintero-Rivera |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:36Z |
| format | Article |
| id | doaj.art-69a2f785a8d3465cb5b9927b924d7535 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:36Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-69a2f785a8d3465cb5b9927b924d75352024-01-27T07:08:31ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100460O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*Fabiola Quintero-Rivera0Yulia Mostovoy1Philip Boone2Steve Huang3Kiran Garimella4Julian Martinez-Agosto5Bianca Russell6Tera Bowers7Tim De Smet8Stacey Gabriel9James Gusella10Harrison Brand11Michael Talkowski12University of California IrvineMassachusetts General, Broad Institute of MIT and Harvard, Boston, MAMassachusetts General Hospital, Boston Children's HospitalMedical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MAMedical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MAUniversity of California, Los AngelesUniversity of California, Los AngelesMedical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MAMedical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MAMedical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MAMassachusetts General, Broad Institute of MIT and Harvard, Boston, MAMassachusetts General, Broad Institute of MIT and Harvard, Boston, MAMassachusetts General, Broad Institute of MIT and Harvard, Boston, MAhttp://www.sciencedirect.com/science/article/pii/S2949774423004600 |
| spellingShingle | Fabiola Quintero-Rivera Yulia Mostovoy Philip Boone Steve Huang Kiran Garimella Julian Martinez-Agosto Bianca Russell Tera Bowers Tim De Smet Stacey Gabriel James Gusella Harrison Brand Michael Talkowski O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* Genetics in Medicine Open |
| title | O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* |
| title_full | O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* |
| title_fullStr | O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* |
| title_full_unstemmed | O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* |
| title_short | O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes* |
| title_sort | o34 application of long read sequencing and telomere to telomere genome assembly unveils complex rearrangements and cryptic breakpoints of robertsonian translocation and ring chromosomes |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423004600 |
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