Understanding Copy Number Variations in Intraoperative Brain Tumor Detection

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Chun-Chieh Lin from Dartmouth Health spoke at the Nanopore Community Meeting in Boston on “Nanopore-based random genomic sampling for intraoperative diagnosis of brain tumors and beyond.” They focused on copy number and methylation alterations. Lin explained that copy number variation (CNV) is a common variant. Current approaches are karyotyping and comparative genomic hybridization, targeted with qPCR. Lin noted that sequencing human genomes in seven hours on 48 PromethION flow cells poses a data analysis challenge. Random genomic sampling for CV evaluation may be useful. The lab developed a one-pot reaction. The rapid reconstruction of genomic DNA is followed by nanopore analysis. Mapping small fragments or coding DNA. With patients, they extract samples and run this assay. The goal is to provide clinical information using the iSCORED system they developed. CNVs are calculated rapidly. Lin shared a request for new participants and the pathology resident. I am curious about their workflow and will look it up.

How can random genomic sampling help identify copy number variations? AI-generated image.