Protocol to combine WGS with Nanopore for Structural Variant confirmation?
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6 weeks ago

Hello everyone,

I'm reaching out to inquire if anyone is aware of a protocol or publication that delineates a methodology for integrating Illumina whole genome sequencing (WGS) data with long-read sequencing data from Nanopore technologies. Is there a recommended approach for this type of data fusion in the context of bioinformatics analysis?

wgs • 391 views
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Please add more details, no one can help you without more info.

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Hard to say if this fits, but you could make a consensus call among the two methodologies using a tool like SURVIVOR. However, this would be dangerous as long and short read data have different sensitivities to detect different classes of SV, so you may end up with a worse overall dataset by merging different sequencing techniques.

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6 weeks ago
trausch ★ 1.9k

Maybe this helps: Nanopore sequencing of medulloblastoma. As part of this project, we added a long-read mode to delly so it supports now short- and long-reads which may help in these kind of projects. This preprint might also be helpful: MedRxiv

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