variant calling

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Advancements in Secondary Analysis for Variant Calling

Thydian Windsor, a Research Scientist in the Machine Learning team at Oxford Nanopore Technologies, gave the secondary analysis update at the Nanopore Community Meeting. They defined secondary analysis as “what does the collection of reads say in aggregate?” For variant calling, improvements on the base-calling side with base-calling models and motor enzymes have been released. […]
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Rare Disease Diagnostics with ONT and Asuragen in the UAE

Ahmad Abou Tayoun from the Al Jalila Children’s Specialty Hospital in the United Arab Emirates, presented at London Calling 2023 a session entitled “Nanopore sequencing as a potential diagnostic tool for genetic diseases in the Middle East.” They noted that “rare diseases are individually rare but are collectively common…” There are globally ~6,000 rare diseases […]
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Personalized OncoGenomics Program Trials using Long-Read Sequencing

Tonight I watched the London Calling 2023 session by Kieran O’Neil from Canada’s Michael Smith Genome Sciences Centre at BC Cancer, Canada. The session title is “The potential of nanopore sequencing for personalised genomics.” They have been supporting a Personalized OncoGenomics Program (POG) that has focused on short-read whole genomes and interested in long-read sequencing […]
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High-throughput Testing in Indonesia

Ariel Pradipta from the Genomik Solidaritas Indonesia Lab (GSI Lab) spoke at the Nanopore Community Meeting 2021 on “The First 100 days of establishing nanopore-based sequencing for national SARS-CoV-2 surveillance.” Pradipta is a senior researcher fellow assisting in the national genomic efforts. They recognized a gap in rapid sequencing. To address this, they worked on […]
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Sniffles2 and Structural Variations

Tonight I watched Fritz Sedlazeck from The Baylor College of Medicine Human Genome Sequencing Center present at the Nanopore Community Meeting 2022 on “Rapid structural variant calling across AllOfUs using Oxford Nanopore sequencing.” Sedlazeck spoke about structural variations (SV) that are 50bp+ genomic alterations. Long read sequencing SV calling improves detection. Sedlazeck and team created […]
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