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Real-time Genomic Characterization of Pediatric Acute Leukemia: UNC Research

The second talk in the session I started watching yesterday was by a postdoctoral fellow from UNC. Julie Geyer from the University of North Carolina Chapel Hill School of Medicine described their research. The title of the talk was “Real-time genomic characterization of pediatric acute leukemia using adaptive sampling.” Leukemia is cancer of the blood. […]
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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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NCM Houston Applications Update

Tonight I watched the NCM Houston Update from Sissel Juul from Oxford Nanopore Technologies. The session is entitled “Covering all bases,” and Juul is the director of the applications team. The talk focused on variant calling mostly on the PromethION. About a year and a half ago, the telomere-to-telomere consortium published the T2T assembly in […]
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Early Detection of Changes in Esophageal Adenocarcinomas

Alvin Ng from the Early Cancer Institute at the University of Cambridge in the UK presented at London Calling 2022 on “Early detection of Barrett’s esophagus and esophageal adenocarcinoma using Oxford Nanopore long-read sequencing.” They began by explaining Barrett’s esophagus (BE) as the pre-malignant condition of esophageal adenocarcinoma (EAC) and has three stages: non-dysplastic, low-grade […]
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