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Improving Reproductive Therapies with Nanopore Sequencing

Svetlana Madjunkova from the CReATe Fertility Centre in Canada presented at the Nanopore Community Meeting in Boston. The session’s title was “Nanopore sequencing in reproductive care.” Nanopore sequencing can be used in reproductive care at several stages of assistive reproductive therapies. Preimplantation genetic testing can improve the success of transfers. Madjunkova noted that current next-generation […]
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CoRAL Toolkit: Studying Extrachromosomal DNA for Cancer Research

Matthew Jones from Stanford University presented at London Calling 2024 a session titled “CoRAL accurately resolves extrachromosomal DNA structures with long-read sequencing.” This toolkit can be used to study extrachromosomal or ecDNA, a form of oncogene amplification in cancers. ecDNA is not found in normal cells, is associated with shorter patient survival, and is large: […]
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Determining Breakpoints and Duplications during Genetic Testing

Chris T.L. Chan from the Hong Kong Sanitorium & Hospital in China spoke at London Calling 2019 on “Long-read NGS guided preimplantation genetic testing for chromosomal structural rearrangement.” Chan presented a clinical scenario. They explained that short-read sequencing allowed the analysis of copy number variation from blood samples. Loss of copy can be identified with […]
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Structural Variation Landscape Analysis with SAVANA

Hilary Elrick from EMBL-EBI in the UK spoke at London Calling 2023 about “SAVANA: a computational method to characterise structural variation in human cancer genomes using nanopore sequencing.” They spoke about the structural variants in cancer and how much is still unknown or understudied. Elrick studied sarcoma and glioblastoma. Sarcomas are cancers of bone and […]
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