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Areeba Patel

Rapid-CNS2: rapid, comprehensive adaptive nanopore sequencing of CNS tumors — a proof-of-concept study

About Areeba Patel

Areeba Patel is a doctoral researcher at the German Cancer Research Center (DKFZ) and University Hospital Heidelberg. During her masters at Imperial College London, she worked on retrotransposable elements in early ovarian cancer. Her work on detection of subclonal variants from liquid biopsies at Cambridge Cancer Genomics led to a keen interest in molecular diagnostics. With the Sahm lab, Areeba has developed Rapid-CNS2, a pipeline to comprehensively characterise CNS tumours using adaptive nanopore sequencing, which notably reduces the turnaround time and effort involved.

Abstract

The 2021 WHO classification of central nervous system tumours includes multiple molecular markers and patterns that are recommended for routine diagnostic use in addition to histology. Sequencing infrastructures for complete molecular profiling require considerable investment, while batching samples for sequencing and methylation profiling can delay turnaround time. We introduce Rapid-CNS2, a nanopore adaptive sequencing pipeline that enables comprehensive mutational, methylation, and copy number profiling of CNS tumours with a single, cost-effective sequencing assay. It can be run for single samples and offers highly flexible target selection that can be personalised per case with no additional library preparation.

Areeba Patel

Areeba Patel

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