Rapid genomic profiling of hematologic malignancies: an update

Abstract

Cytogenetic analysis represents a key part of diagnostics in hematologic malignancies. In accordance, Anna Dolnik aimed to establish and validate karyotyping based on low coverage whole genome sequencing (WGS) using Oxford Nanopore technology and test its applicability in a wide spectrum of hematologic malignancies. Oxford Nanopore technology was found to provide rapid results for CNVs at high resolution of 0.1 Mbp and high reproducibility. Anna Dolnik presented an example of 50 cytogenetically aberrant well-characterized AML cases for which she compared nanopore-based profiles with conventional cytogenetic analysis.

Bio

Anna Dolnik is PostDoc at the Charité – University Medicine Berlin, Campus Virchow in Germany. Trained as a biologist, she switched to processing of Illumina short-gun sequencing in 2012, working at the edge of biology and bioinformatics. In 2016 Anna first experienced working with Oxford Nanopore technology through resequencing of novel fusion genes found in AML with complex karyotype and now routinely uses a GridION for better characterization of high-risk AML. Her research focusses on clonal evolution in blood cancer (acute myeloid leukemia), identification of cancer driving genes and characterization of complex changes in cancer genome by whole genome sequencing.