detection

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A Bed File to Create a Molecular Diagnostic Panel for Germline Cancer Predisposition

Tonight I continued watching the London Calling 2023 targeted sequencing showcase. In the four-minute recording entitled “The potential use of nanopore sequencing for molecular diagnosis of germline cancer predisposition,” Romain Boidot from the Centre Georges-François Leclerc in France spoke about their use of Oxford Nanopore Technologies (ONT) for molecular diagnosis and sequencing. Their current analysis […]
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Identifying and Plotting Short Tandem Repeats with Pathological Implications

Hagar Mor-Shaked from the Hadassah Medical Organization & Faculty of Medicine at the Hebrew University of Jerusalem in Israel presented at London Calling 2023 on “Pathological short tandem repeats analysis by long-read sequencing in affected individuals.” They explained that pathological repeat expansions can be found in coding and non-coding regions, and a few dozen have […]
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Detecting RNA Modifications with Nanocompore

Logan Mulroney from EMBL-EBI and IIT-CGS Italy presented at London Calling 2022 on “Detecting RNA modifications from nanopore ionic current signals.” They spoke about chemical and physical modifications of RNA and how they are “really dynamic.” I did not know there are “eraser” proteins that remove modifications, “writers” that add the modification, and “readers” that […]
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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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