copy number variants

  • Home
  • Tag: copy number variants

Fusion and Methylation Detection for Pediatric Tumors

Mathilde Filser from the Curie Institute in France spoke about “Simultaneous methylation and fusion detection for pediatric tumor characterization” at London Calling 2024. They explained that neuro-oncology includes many entities and DNA methylation has an “undeniable impact.” The gold standard is the Illumina EPIC array. The lab developed a workflow for frozen brain tumor samples. […]
Read more

Oxford Nanopore Technologies Innovations for Rapid Tumor Classification – London Calling 2024

The London Calling 2024 studio interview session I watched tonight was about rapid tumor classification. Zoe McDougall spoke to Simon Paine from Nottingham University Hospitals NHS Trust in the UK. Paine is a neuropathologist and analyzes samples to predict patient outcomes. They are excited about discovering ways to classify tumors using Oxford Nanopore Technologies. The […]
Read more

CNV and SV Detection

Luis Paulin from the Baylor College of Medicine presented at London Calling 2023 a short session entitled “The long and short of structural variants using Oxford Nanopore Sequencing.” Paulin described how genomic variation caused structural variants (SV) and copy number variants (CNV). Using long-read technology allows for access to difficult to sequence genomic regions, thus […]
Read more
Press ESC key to close search