Sniffles2

Advancements in Structural Variant Detection with Sniffles2

Fritz Sedlazeck from Baylor College of Medicine spoke at the Nanopore Community Meeting in Boston on the “Detection of mosaic and somatic structural variants with Sniffles2.”Sedlazeck spoke about the advantages of long-read sequencing for structural variant detection. Their team is improving Sniffles2 for insertions and deletions and larger structural variants. Full structural variant genotyping requires […]
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EPI2ME Workflows for ONT Data Analyses

Dilrini De Silva is a Field Applications Scientist in Bioinformatics for the EMEAI Region with Oxford Nanopore Technologies. De Silva presented a Masterclass at London Calling 2023 entitled “How to take your data analysis further.” This Masterclass focused on typical downstream analysis for several applications including genome assembly, variants, methylation, transcriptomics, and metagenome analysis. De […]
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Retrotransposon Insertions in Rare Diseases

Belen de la Morena-Barrio from the University of Murcia, Spain presented at London Calling 2023 on “Nanopore sequencing reveals retrotransposon insertions or complex genetic mechanisms in four rare disorders.” Morena-Barrio spoke about the impact of “rare” diseases and the challenges of diagnosis. They noted that often it takes four or five years for accurate diagnosis […]
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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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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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