structural variation

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A Guide to Structural Variation Analysis

Today I watched the Knowledge Exchange session from Nanopore Learning about “A beginner’s guide to structural variation analysis: from discovery to basic annotation.” Steven Rudd, a bioinformatics expert at Oxford Nanopore Technologies, shared a couple of slides and then explored the structural variation tutorial. A structural variant (SV), Rudd said, is typically considered as “a […]
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Structural Variant Detection and Analysis

Continuing with the Nanopore Learning course on Human Genome Sequencing and Analysis, tonight I watched the video about structural variation detection. Anthony Doran, a member of the Technical Services Team with Oxford Nanopore Technologies, defined structural variation as large structural changes in your sample compared to the reference genome. The examples Doran shared on a […]
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Structural Variant Detection and Nanopore

“Comprehensive structural variant detection: from population to mosaic level” was the intriguing title for the session Fritz Sedlazeck from Baylor College of Medicine presented at London Calling 2022. Sedlazeck spoke about challenges of determining structure variants and their importance for learning about evolution, genomic disorders, their impact on regulation, and their impact on phenotypes. Sedlazeck […]
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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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